Hemophilia – the hemophilia
This leads to serious complications if those injured. Overall, the disease is divided into two major types, hemophilia A and B, and several subtypes of missing coagulation factor, of which human possesses several. However, the mechanisms of the different types are comparatively similar.
Name (s):Hemophilia; Hemophilia; royal diseaseType of disease: hereditary disease Distribution: Worldwide First mention of the disease: Circa 5th century in the Talmud treatable: treatable; but not curable Type of trigger: gene mutation How many sufferers: About 0; 01% of the world population Which specialist should you visit:GP; Pediatrician; orthopedist; Hämostaseologe; Specialist in human genetics ICD-10 code (s): D66; D67; D68
Hemophilia is a rare hereditary disease. The sex-linked X chromosome disorder manifests almost exclusively in males, although the genetic mutation causing the disorder is localized on the X chromosome and can be inherited from the mother of male children or the mother or father of female children.
This is because the trait is recessive, which means that only a properly functioning copy of the clotting factor gene is necessary for normal coagulation. Females have two X chromosomes and thus redundant copies of the blood coagulation factor gene.
A woman who inherits a mutated copy on an X chromosome has also inherited a second X chromosome from the other parent who probably carries an unmutated copy of the gene capable of directing a suitable coagulation.
Such a normal coagulation female, but possessing a single mutated copy of the gene, is called a carrier. Men have only one X chromosome inherited from their mother and have also received a Y chromosome from their father instead of a second X. If your only X chromosome contains the hemophilia mutation, unlike women, you will not have a second copy to ensure normal function.
Each child of a carrier has a 50% chance to inherit the mutation of his mother and afterwards to be a hemophile (son) or carrier (daughter). The daughter of a male hemophile will always inherit his mutation, while a son can never inherit it, as he receives the father’s Y chromosome, but not his X chromosome.
A woman is rarely affected by hemophilia when she inherits mutant X chromosomes from both a hemophiliac father and a host mother.
Haemophilia is transmitted through a defective X chromosome, although it does not necessarily occur recessively in every generation. In the following, carriers also pass on their genetic make-up to their own offspring, without being registered as a blood-man himself.
For this reason, the first signs are absolutely necessary to tell a doctor, so that the appropriate prophylactic steps can be initiated and the person concerned can be protected.
If the subject injures a blood vessel, he will notice the very slow or sometimes seemingly non-existent bleeding in the damaged body area. In addition, ad hoc bleeding occurs in many cases – usually without an obvious wound being perceived.
In this regard, those affected are colloquially referred to as hemophiliacs, which is to be found to a considerable extent in men. In the three stages of mild, moderate and severe, the patient denies his possible injuries due to the recessive inherited disease to varying degrees of stress.
Patients are always dependent on the use of coagulants in the case of major injuries, as otherwise, in the worst case, death can result from bleeding.
If a person suffers from hemophilia, then he can not be cured by this. Reversing a gene mutation is still not possible. Only a few alternative therapies that add blood clotting factors to the blood are possible. However, current research is working intensively on using genetic engineering to develop a remedy for hemophilia.
A hereditary disease
Haemophilia is one of the so-called hereditary diseases. This means that the problem that causes the disease is in the genes of the parents, which are then transferred to an embryo at fertilization. In hemophilia this affects the so-called X chromosome.
Female animals have two X chromosomes, whereas males have one X and one Y chromosome. Thus, when a female embryo arises, each of them gets a chromosome of mother and father. A male embryo in turn receives the Y- from the father and an X-chromosome from the mother.
Since the mutations that cause the disease hemophilia are X-linked recessive, a woman bearing the defect on one of her X chromosomes may not be affected because the equivalent allele on her other chromosome compensates for the mutation to generate necessary coagulation factors.
The affected mutation gene remains inactive in this sense. However, the Y chromosome in the male does not have a gene factor VIII or IX factor which is responsible for the two major types of hemophilia. If the genes responsible for the production of Factor VIII or Factor IX on a male X chromosome are absent, there is no equivalent on the Y chromosome to compensate for the mutation so that the deficient gene is not masked and the Disorder develops.
Since a man, as already mentioned, receives his single X chromosome from his mother, the male offspring of a healthy woman carrying the deficient gene in inactive form has a 50% chance of getting the gene from her and thus inheriting the disease. If, on the other hand, the intact and active X chromosome is passed on, the disease does not arise.
It is also possible, however, that the mother herself suffers from hemophilia, as both chromosomes are affected. Under these circumstances, the likelihood is 100% that the offspring will also contract hemophilia.
Therefore, hemophilia is much more common in men than in women. However, it may be possible for female carriers to become mild hemophiliacs by improper inactivation of the X chromosomes.
Hemophiliac daughters are currently more prevalent than previously, as improved treatments for the disease have enabled more hemophilic men to survive adulthood and become parents. Adult women may experience menorrhagia (severe periods) due to the tendency to bleed.
The pattern of heredity found in hemophilia is called cross-inheritance. This type of pattern is also found, for example, in color blindness, which also occurs much more frequently in men than in women.
A mother who is a carrier has a 50% chance of passing the defective X chromosome to her daughter, while a concerned father always passes the affected gene to his daughters. Since the mutation is recessive and non-dominant, the healthy gene will subsequently correct the mutation.
A son can not inherit the defective gene from his father because he receives a Y chromosome from him. Genetic testing and genetic counseling is recommended for families with hemophilia. Prenatal tests, such as amniocentesis, are available to pregnant women who may be carriers of the disease.
Spontaneous or inherited
Of course, as with all genetic disorders, it is also possible for a human to acquire them spontaneously through mutation, rather than receive them from the parents when they are raised by heredity.
Spontaneous mutations account for about one third of all hemophilia A cases. About 30% of cases of hemophilia B are also the result of a spontaneous gene mutation. When a woman gives birth to a hemophilic son, either the woman is the carrier of the blood disease or hemophilia is the result of a spontaneous mutation.
Until modern direct DNA testing, however, it was impossible to determine if a woman with only healthy children was a carrier or not. In general, the healthier she was, the higher the likelihood that she was not a wearer.
If a man has been infected with the disease and has children with a woman who is not the mother of the mutation, his daughters will be carriers of haemophilia. His sons, however, will not be affected by the disease. The disease is X-linked and the father can not pass hemophilia through the Y chromosome.
Persons with less than one percent active factor are classified as severe hemophilia sufferers, those with one to five percent active factor have moderate hemophilia and those with mild hemophilia even up to 40% of the normal level of active coagulation factors.
In the following hereditary disease, the patient suffers from a reduced coagulation function of his own blood.
What is hemophilia??
Hemophilia, also commonly referred to as hemophilia, is a mostly inherited genetic disorder that interferes with the body’s ability to produce blood clots. Consequently, these people are not given a process that causes bleeding to be stopped.
As a result, people will bleed longer after an injury, have more bruising, and be at increased risk for bleeding in the joints or brain. Those who suffer from a mild variant of the disease may have symptoms only after an accident or during surgery.
The strong course leads to more serious restrictions in everyday life. Hemorrhaging into a joint can cause permanent damage, while bleeding in the brain can lead to long-term headaches, seizures, or a decreased state of consciousness.
There are two main types of hemophilia, referred to as hemophilia A and B, which were determined in 1952: The Hemophilia A, which occurs due to the low coagulation factor VIII, and the Hemophilia B, which arises due to the low coagulation factor IX.
Both species are typically inherited from parents via an X chromosome with a non-functional gene. Rarely, a new mutation can occur during early development.
Still more rarely does hemophilia occur later in life due to antibodies that form against a coagulation factor. Other types of this disorder include hemophilia C, which develops due to insufficient factor XI, and parahemophilia, which occurs due to insufficient factor V..
Acquired hemophilia is associated with cancer and various autoimmune diseases. The diagnosis is that the blood is tested for coagulability and coagulation factors.
prevention & cure
An actual prevention In terms of hemophilia, there is no, because it is an inherited gene mutation that can not be corrected in retrospect. It is only possible during pregnancy to have the embryo tested for coagulation factors.
If the results point to this disease, then an abortion is possible. However, many doctors do not recommend this because the progress of medicine can enable a partially normal everyday life even with this disease.
The cure hemophilia is not yet possible. But there are different therapeutic approaches. As a rule, the treatment by replacing the missing blood coagulation factors. This can happen regularly or during bleeding episodes.
The replacement can take place at home or in the hospital. The coagulation factors are produced in this method either from human blood or from recombinant proteins (factors produced by genetic engineering). However, up to 20% of people develop antibodies to coagulation factors, which makes the treatment extremely difficult.
In addition, that can drug Desmopressin can be used in patients with mild hemophilia A. There are also a number of studies in the field of genetic engineering that deal with haemophilia. The first experiments with humans were already carried out here and were quite successful.
Overall, hemophilia is one of the comparatively rare hereditary diseases. For one thing, in the majority of cases it occurs only in men. On the other hand, the gene mutation per se is rather rare.
Since hemophilia A and B are both X-linked recessive disorders, women are rarely severely affected, as previously noted. However, some women with a non-functional gene on one of the X chromosomes may be mildly symptomatic.
An exception forms Hemophilia C. It occurs equally in both sexes. Studies have found that this disease is predominantly found in people who are descendants of Ashkenazi Jews.
In the 19th century, this disease was particularly well known. This was based on the fact that haemophilia was common within the royal families of Europe. This is the basis for the common name of hemophilia as a royal disease.
causes & formation
The hemophilia causes vary depending on which type it is. Therefore, a distinction is made in the causes and the origin between hemophilia A and B as well as the subtypes (eg hemophilia C).
Haemophilia A is inherited as an X-linked recessive trait. It occurs in men and in homozygous women. This means that the disease only occurs in females if the father is hemophilic, ie has a damaged X chromosome, and the mother is also the carrier of the disease and has also passed on a mutated gene to the daughter.
However, it is known that mild hemophilia A can also occur in heterozygous women in whom the mutant gene does not become completely inactive. Therefore, it is recommended that levels of Factor VIII and IX be measured prior to surgery and for clinically significant bleeding in all known or potential carriers.
About 5-10% of people with hemophilia A are affected because they produce a dysfunctional version of the factor VIII protein. The remainder of the disease is affected by this disease because factor VIII is produced in insufficient quantities. Consequently, there is no qualitative but quantitative shortage here.
Of those patients who have a severe form of hemophilia A that has less than one percent of active Factor VIII, about half have the same mutation. It is an inversion within the factor VIII gene that leads to complete elimination of protein production.
In contrast to hemophilia A, the concerns Hemophilia B Factor IX of blood clotting. The Facto IX gene is also located on the X chromosome. Its mutation also corresponds to an X-linked recessive trait, which explains why almost only men are affected.
In 1990, some physicians showed that two genetic mutations prevent two key proteins from clinging to the DNA of people with a rare and unusual form of hemophilia B. These people have excessive bleeding during childhood.
However, these bleeding problems decrease after puberty. This lack of protein attachment to the DNA knocked out the gene that produces coagulation factor IX, which prevents excessive bleeding.
Factor IX deficiency leads to an increased tendency to bleeding, either spontaneously or in response to mild trauma. Factor IX deficiency can lead to disruption of the coagulation cascade and trauma to spontaneous bleeding.
Factor IX becomes active during coagulation by cofactor factor VIII. Platelets provide a binding site for both cofactors. Finally, Factor IX, when activated, activates factor X, which promotes the conversion of fibrinogen into fibrin, which are essential elements of wound closure and are often referred to as the coagulation substrate.
In addition to haemophilia A and B, there are some more subtypes, which can influence the specific genes in different ways and thus inhibit the coagulation factors. This includes, for example, the Hemophilia C, also known as plasma thromboplastin antecedent deficiency or Rosenthal syndrome.
It is a mild form of hemophilia affecting both sexes due to a factor XI deficiency. This form concerns a specific gene mutation that predominantly occurs in Jewish people of Ashkenazi descent.
Hemophilia C is caused by a lack of coagulation factor XI and differs from hemophilia A and B in that it does not lead to bleeding into the joints.
In addition, it has an autosomal recessive inheritance, since the gene for factor XI is located on chromosome 4 (near the prekallikrein gene, and thus it is not completely recessive.) In contrast to other hemophilia, individuals can also be found are heterozygous, show an increased bleeding tendency.
An exact cause of hemophilia C does not exist. Here are various mutations in question, which can be acquired in the course of life. Comparatively many mutations exist and the risk of bleeding is not always affected by the severity of the deficiency. Hemophilia C is occasionally developed in patients with systemic lupus erythematosus due to inhibitors of the FXI protein.
However, a single mutation is not responsible here. Rather, the various forms of hemophilia can be caused by a variety of different mutations. The result is always a lack of a certain factor, which is decisive for the blood clotting.
For this reason, initial diagnosis is usually done by measuring protein activity rather than genetic testing, although genetic testing is recommended for family members as soon as a known case of hemophilia has been identified.
About one third of patients have no family history. Therefore, the disease does not arise as a hereditary disease, but it is suspected that subsequent or spontaneous mutations are responsible for the disease.
symptoms & sign
Characteristic symptoms of hemophilia usually vary with the severity. In general, the symptoms are internal or external bleeding episodes that are simply called bleeding.
People with severe hemophilia experience significantly heavier and more frequent bleeding, while people with mild hemophilia usually have minor symptoms, such as after surgery or severe trauma. In moderate hemophilia symptoms vary and may manifest in a spectrum between severe and mild forms.
By both Hemophilia A and B there is spontaneous bleeding, but a normal bleeding time, an average prothrombin time, a normal thrombin time, but prolonged partial thromboplastin time. Internal bleeding is common in people with severe hemophilia and in some people with moderate hemophilia.
The most characteristic Type of internal bleeding is a joint bleeding in which blood enters the joint space. This is most common in severe hemophiliacs and can occur spontaneously without obvious trauma. If these patients are not treated promptly, joint bleeding can result in permanent joint damage and disfigurement.
Bleeding in the soft tissues such as muscles and subcutaneous tissue are less severe, but can cause damage and must also be treated.
children & baby
children with mild to moderate haemophilia may have no signs or symptoms at birth, especially if they are not pruned. Their first symptoms are often frequent and large bruises and hematomas, which arise as a result of falls when learning to walk. It also causes swelling and bruising due to bleeding in the joints, soft tissues and muscles.
Children with mild hemophilia may not have any noticeable symptoms for years. Often the first sign of very mild hemophilia is heavy bleeding during a dental procedure, accident or surgery.
women, The carriers are usually have enough coagulation factors from their normal gene to prevent serious bleeding problems, though some may appear as mild bleeding. Here only symptoms appear, if surgical interventions are made or serious injuries exist.
Depending on severity
It can be seen later that haemophilia, regardless of type, can lead to internal and external bleeding episodes. Depending on the severity of the disease and the number of functional coagulation factors, these only occur as a result of injury or entirely spontaneously.
In people who have one mild form of hemophilia and have about 40% active coagulation factors, shows only after major surgery and injuries increased bleeding tendency.
Patients who have a sdifficult course form can suffer from sudden bleeding. This also means that there is no way to prevent them or, if necessary, to prepare for a bleeding episode. If a person has moderate hemophilia, a combination of the common symptoms may occur. Here, for example, show faster hematomas and it comes simultaneously to bleeding in the joints. But a complication-free life is possible and bleeding episodes occur spontaneously in mild trauma.
The specific symptoms of hemophilia are therefore a significantly longer bleeding and at the same time a bad wound healing. As an early indication is for example a longer bleeding by venipuncture or heel bruise.
inwardly & externally
Bleeding can theoretically occur anywhere in the body, superficial bleeding, such as those caused by abrasions or shallow cuts, can persist longer in terms of healing time, and the scab can be easily broken due to the lack of fibrin, which in turn can lead to re-bleeding.
Superficial bleeding can be annoying. However, they do not represent an actual danger to the patient. Only in the case of a large number of cuts or bruises can relatively much blood be lost.
Then the patient may show symptoms of anemia or iron deficiency. Tiredness, pain in the muscles and joints as well as breathing problems and indigestion are the result.
at internal bleeding Of course, the situation is completely different. Here, bleeding episodes, especially if they occur spontaneously, can be dangerous and life-threatening. As a rule, the joints, muscles, digestive tract and brain are affected.
Muscle and joint bleeding, which as hemarthroses are always indicative of hemophilia, while gastrointestinal bleeding and cerebral hemorrhage are also relevant to other coagulation disorders.
Repeated bleeding into an articular capsule can cause permanent joint damage and disfigurement, leading to chronic arthritis and disability. Joint damage is not caused by blood in the capsule but by the healing process.
When the blood in the joint is broken down by enzymes in the body, the bone in that area is also broken down, causing a lot of pain to the person affected by the disease. Depending on which parts of the body are still affected by bleeding, it can also lead to many other possible symptoms that result from the functional impairment of the organs.
diagnosis & examination
Until a few years ago, a person could only be screened for symptoms of hemophilia if they had already occurred. Today it is possible thanks to genetic testing, the disease probability to determine before a pregnancy. However, there are other diagnostic procedures. These depend primarily on whether a history exists and when the first symptoms begin.
So hemophilia can be in front, while or after birth be diagnosed. If a family history exists, parents have several options to choose from. For example, it is possible to find out about the hemophilia and the likelihood of its occurrence in the offspring before pregnancy.
Genetic tests and a consultation through a Specialist in human genetics are available to determine the risk of transmitting the disease to a child. As a rule, an examination of both parents is carried out here, on the one hand checking the coagulation factors in the blood and, on the other hand, detecting gene defects by means of a tissue sample.
Shows up at the mother a carrier gene, there is a 50% chance that either a hemophiliac carrier or a hemophile will be born. Own one man a mutated X chromosome, he is hemophilic himself. Then a possible daughter 100% even the mutated gene received. On son however, the Y chromosome inherits and is not affected by the disease afterwards.
To have both parents a mutated X chromosome, which is comparatively rare, there is still a 50% chance that the son Hemophilia will suffer. A daughter would be 100% self-carrier of the mutation, but can also suffer 50% of the disease, as it inherits a mutated gene from the mother.
A human geneticist will always educate about these possibilities. Afterwards, parents learn before they can conceive to what extent the future child could be hemophilic.
But even during pregnancy, a woman in whose family haemophilia is common, can be tested on these. One of the common tests is, for example, the chorionic villus sampling. A small sample of the placenta is removed from the uterus and usually tested for hemophilia during weeks 11 to 14 of pregnancy.
But it is also one amniocentesis possible. Amniocentesis, also known as amniocentesis, is usually performed during weeks 15 through 20 weeks of gestation. In this case, liquid is taken with a cannula directly from the amniotic sac, in which cells of the embryo are located.
An amniocentesis is now a relatively frequent procedure. Nevertheless, there is a risk of miscarriage or premature labor, as a result of premature birth.
Whether afterwards Amniocentesis makes sense, should be discussed with the treating gynecologist. In those cases where it has been shown during pregnancy that the fetus will suffer from a severe form of hemophilia, a woman may have over one abortion think. However, most doctors advise against this, because thanks to modern medicine for hemophilia patients a relatively normal life is possible.
A hemophilia test is also possible after birth. Here can blood directly from the umbilical cord can be tested, which can be tested directly after birth, if hemophilia is present. This procedure is usually appropriate if there is a family history and no pregnancy test was performed during pregnancy for safety reasons.
The decisive factor is whether the coagulation factor IX (B), XI (C), V (paraphilia) or VIII (A) is affected. Finally, the number of coagulation factors present can also be recognized. In this way it can be determined how severe the hemophilia will be afterwards.
Severe haemophilia is present when there is less than one percent coagulation factors, moderate hemophilia results from approximately five percent active factors, and mild disease consists of five to forty percent of functional coagulation factors.
In addition to the hereditary variant sometimes acquired hemophilia also occurs. Decisive here can be an autoimmune disease, a cancer but also a birth.
Then of course one Genetic test provide hardly meaningful results. Here also a blood test is carried out. As a rule, a reduction in the active factor V or VIII is shown. In addition, there is sometimes evidence of antibodies advisable against these factors in the blood.
If hemophilia is mild, it may not be diagnosed until surgery or injury bleeding occur.
Obviously the sufferer suffers from haemophilia if he is too many and too long bleeding symptoms inclines. With only a small wound, the blood seems to exit the wound without stopping, which can turn out to be a major problem for large or deep injuries.
If the care or the medical care is not given immediately, the body can lose so much blood in such a short time that on the one hand the consciousness of the affected person is disturbed and on the other hand important body and circulatory functions can not be maintained to the extent it the normal case estimated.
Less problematic in the shallow stages, but nevertheless become omnipresent to those suffering from hemophilia spontaneous bleeding which, however, heal quickly and sometimes even almost unnoticed. Despite the occurrence of symptoms of possible hemorrhages on the whole body, the joints in those affected show as the primary indicator of such genetic disease.
After an accident or trauma, there is often an initial bleeding in the areas of the large joints. To stabilize this body region, the body compresses that site with more vascular systems. Actually counterproductive for the future, this measure proves to be a strong potential for further joint bleeding.
wounds & hematomas
at lacerations, but also at Scraping and cutting wounds, is to register a cover by the platelets in the first moments. In the course of apparent healing, however, blood breaks through the crust again and again and thus maintains the flow of effusion and prevents the healing – the pressure in the blood vessels pulsates the blood repeatedly through the newly formed protective layer and is noted as striking permanent tearing.
Close-up of a hematoma
Shutterstock / Stephane Bidouze
This process is also followed by another feature of the disease – the hematoma. Even without external action, this pressure on the wound or in the case of non-open injuries of the small capillaries can cause subcutaneous or intramuscular bruising. These are now increased in the body of those affected and often seen.
In addition, as a result of this dysfunction there is a risk of internal bleeding, so that obstruction of the urinary tract due to thrombi or renal bleeding can be diagnosed with concomitant colic.
According to the stages It can lead to simple hemorrhages, hematomas with concomitant pain or even above-average nosebleeds. In particular, female patients could also complain of greater menstrual bleeding or the increased formation of bruises – especially in so-called medical trivial and especially in childbirth these signs are correct to interpret.
at children the carry-over of the coagulation cascade can be noticed, especially in developing age, by joint bleeding or apparently suddenly broken wounds.
Furthermore, the symptoms also leave on the Von Willebrand disease or that Owren syndrome conclude – a test for hypoproacelioma should also be considered.
Due to regular bleeding – and in addition usually accompanying inflammation – it can lead to significant joint stiffness. Because this form of osteoarthritis – one speaks of hemarthrosis – may be related to surgery on the elbow, knee, shoulder or ankle.
In addition, it can be more dangerous if the areas of the skull are integrated into the bleeding character – here urgent medical advice must be sought.
frequency & statistics
Although haemophilia, often called hemophilia, is known to most people, it is still a very rare hereditary disease. It is assumed that worldwide only 0.01% the population of Hemophilia A and 0.04% of hemophilia B are affected.
In most cases, these are males, because the disease is inherited via the X chromosome. women can compensate for such mutations by another X chromosome and develop thereafter no disease. Of course, this is not possible for men.
How much women currently suffering from hemophilia is not known. This also applies to the possible presence of a mutated gene in women. Since the disease does not break out here, women may not know that they carry the blood, and thus can pass it on.
For this reason, annually about 1000 people born with hemophilia. The numbers, however, may well deviate from reality. This is mainly due to the fact that in other countries there is no adequate documentation of hemophilia and especially mild forms are not always diagnosed.
ancestry & countries
However, in contrast to other countries, in Germany predominantly the so-called Hemophilia A which leads to a greater tendency to hemorrhage than haemophilia B. Therefore, only one third of those affected worldwide are affected by severe haemophilia.
It has been assumed for some time that certain ethnicities be predisposed to the occurrence of hemophilia. For example, Ashkenazi Jews, mainly from Northern or Eastern Europe, as well as some tribes of Finland are much more affected by haemophilia than other people.
However, this can not be attributed to specific gene variants in these people, but rather to coincidences as well as a specific partner choice within closed communities, which have subsequently favored a transfer.
Therefore, two categorical hemophilia are to be distinguished, whereby variant A can only occur in male subjects due to an X chromosome defect as hereditary coagulation defect. Women have a balance due to their second X chromosome.
The lack of antihemophilic globulin now causes the partially grueling phenomena. The second form of hemophilia, meanwhile, will cause only very slow blood clotting due to the deficit of the Christmas factor.
Furthermore, a very rare autosomal coagulation defect – depending on the autosomes and therefore not gender specific – can occur, which also causes an enlargement of the coagulation cascades.
With the existence of potential intermediate forms such as parahemophilia due to a lack of coagulation factor or Angiohämophilie together with reduced carrier protein for the coagulation factor, it is necessary to force the individual diagnosis.
Even the simplest forms of tripping or kinking may mean a new hemorrhage for the hemophiliac patient, which, depending on its extent, may possibly be treated again by a doctor.
Likewise, stretching the neck while sleeping at night is a cause of bleeding. Serious accidents and inflammations of the body cause a corresponding sensitivity through increased vascularization – paradoxically, that these lay the foundation for frequently occurring, more or less extensive, bleeding.
In addition, an experienced trauma can cause a muscle bleeding, this form is less common, but also more devastating. Should it come to a muscle bleeding, the patient is confronted with a very high probability of crippling the tissue.
It becomes dangerous for the subject when forearm or calf muscle should be affected. For this reason, hemophiliacs should receive all vaccinations strictly subcutaneously and not intramuscularly.
complications & consequences
Hemophilia, of course, causes discomfort when bleeding occurs. Overall, however, serious complications are only to be expected, even if there is severe or moderate hemophilia. After this, complications may arise from the disease itself or the appropriate treatment.
As an essential and relatively common complication occur deep internal bleeding on. These include, for example, deep muscle bleeding. These usually lead to severe swelling, numbness or body aches. But also bleeding in organs are possible.
A particular problem arises especially if this is the case brain is affected. A intracranial hemorrhage is a serious medical emergency caused by the build-up of pressure in the skull, which forms when blood accumulates under the skull. This can cause disorientation, nausea, loss of consciousness, brain damage and even the death of the person affected.
Frequently in terms of hemophilia is also the so-called hemarthrosis, So a haemophilic arthropathy. Here, blood enters the joints and gradually destroys the cartilage. If the hemorrhage does not drain early, ie is drained off, the joint capsules become inflamed and synovitis develops. Iron can also accumulate in the joints as a result of the influence of blood, which in turn leads to signs of inflammation.
The immune response to the inflammatory processes and the permanent iron deposition also stimulates angiogenesis (cleavage of blood vessels), which can ultimately destroy cartilage and bone completely. This manifests itself not only in severe pain, but also in disfigurements of the affected joint regions, curvatures and progressive paralysis.
In addition to the complications that arise from the disease itself, but also show serious side effects of various treatment methods. For example, it is common practice for affected individuals to receive clotting factors via human blood during the periods of bleeding.
In such transfusions it has come several times to various infections. These result from the frequency of transfusions themselves, but also from impurities in the blood.
Although rigorous testing is testing the donor blood for various infectious agents, it has come to devastating disease transmission throughout history. For example, in the 1980s, donor blood transmitted HIV. But also infections with herpes are possible.
Research is currently underway on whether cancer cells, which can be found in the blood, especially in metastatic cancer, after a transfusion in the body of the recipient spread and there can also lead to metastases. Clear results are not yet available.
Most physicians also rate the likelihood of such cancer cell transmission as relatively low. Absolute security, however, does not exist in transfusions of foreign blood.
Other side effects also arise when the body has a coagulation factor immune response There are antibodies against coagulation factors are formed. This makes the factors significantly less effective.
In addition, the frequent Immune reaction contribute to a weakening of the patient’s health. This is especially unfavorable when there is an acute bleeding episode.
Overall, the complications of hemophilia are known and are well considered by the treating physicians during a therapy. However, it is imperative that one regular examination of hemophilia patients takes place and first symptoms of hemorrhage are immediately examined and treated. In addition, a therapy should always be accompanied by a doctor.
When to the doctor?
When should you go to the doctor?
Here you can seek advice from a human geneticist or haemostaseologist to have specific tests done and then determine the risk of a child developing hemophilia. This can certainly play a role in the decision for a child.
In addition, it is also advisable for a woman expecting a child to consult a gynecologist with questions about hemophilia insofar as the child’s producer is hemophilic or has a family history of hemophilia. Here it is also possible to perform tests before birth that provide certainty about the health status of the child. Such tests are also possible after birth.
A doctor should also be consulted if a child shows an increased tendency to bleed. This means that, especially at the stage of life in which the child is learning to walk, hematomas are much faster and the bruises are unusually large.
In some cases, acquired hemophilia is also possible. The symptoms are initially less pronounced. However, it is worthwhile to contact a doctor if it is noticed that bruises are significantly larger and heal cuts and scrapes very badly.
In addition, it is of course advisable to seek medical help immediately if complications with the disease occur. These include, for example, joint pain, severe fatigue, muscle aches, headache, drowsiness and diminished consciousness. Doctors, such as dentists, should also contact a specialist if a patient has an increased tendency to bleed.
treatment & therapy
There is no long-term cure for hemophilia. Thereafter, the treatment is for the symptoms of gene mutation and is essentially done by replacing the missing blood coagulation factors.
Coagulation factors can be supplied by transfusion of foreign blood or by chemically prepared combination preparations. Factor replacement can thus be isolated from either human blood serum, recombinant or a combination of the two.
Commercially produced factor concentrates, such as a recombinant factor VIII, come in powder form into an ampule which must be mixed with sterile water prior to intravenous injection. Finally, this mixture is passed via a transfusion into the bloodstream of the patient.
Such coagulation factors are usually not needed in mild hemophilia. In moderate hemophilia, coagulation factors are typically used only when bleeding or bleeding is to be prevented in certain events, such as surgery.
For severe hemophilia, preventive use is often recommended two or three times a week and can be continued for life. The rapid treatment of bleeding episodes reduces the overall damage to the body.
Of course, the factors that are administered via blood or combination will depend on the underlying condition. Factor VIII is in the presence of hemophilia A and Factor IX used in hemophilia B.
Some people develop during a therapy antibody against the surrogate factors that are given to them so that the amount of the factor must be increased or nonhuman substitutes must be administered.
If a person reacts refractory to the replacement coagulation factor due to circulating antibodies, this can be partially overcome with recombinant human factor VII.
However, coagulation factors of other organisms are also suitable. Is often used as well as the Factor VIII from the pig. At the beginning of 2008, a haemophilic factor was also approved in America, consisting of the genes of Chinese ovary cells Hamsterart was extracted.
This sounds unusual at first. However, research into hematopoietic blood formation has been going on since the 1980s. This is intended, inter alia, to prevent anemia in dialysis patients.
countries & risks
In most countries, factor products are comparatively easy to obtain and are now a relatively safe treatment method. While products with a recombinant coagulation factor provide greater purity and safety, as a concentrate they are extremely expensive and not generally available in developing countries.
In many cases, factor products are of any kind in developing countries difficult to obtain.
In addition, regardless of the fact that regular screening of the samples and transfusions are performed under sterile conditions, transfusions do indeed result risks.
In addition to rare bacterial transmissions, allergic reactions and the transmission of harmful lymphocytes, for example, an iron storage in long-term transfusions is not uncommon.
This can be followed by a hemochromatosis form. For this reason, it is advised to start regular treatment only when symptoms of haemophilia appear.
drugs & medicines
In addition to the transmission of coagulation factors, there are a number of drugs, which can be used to treat mild hemophilia. Among other things, desmopressin, a synthetically produced protein, can be used in patients with mild hemophilia A. Tranexamic acid or epsilonaminocaproic acid may be co-administered with coagulation factors to prevent the breakdown of clots.
Essential elements of a hemophilia treatment also provide Painkiller, steroids and physical therapies They are mainly used to treat pain and swelling after joint bleeding.
In addition, it is mostly tried by means of drains remove the excess blood from the joints to prevent damage to the cartilage and joint capsule.
However, there are also some medications that can be quite dangerous when taken by hemophilia: Anticoagulants such as heparin and warfarin are for people with hemophilia contraindicated, as these can increase the coagulation difficulties.
Also contraindicated are those drugs that blood thinning side effects to have. For example, medicines containing aspirin, ibuprofen, or naproxen sodium should not be taken, as they are known to have a prolonged bleeding time as a common side effect.
With the administration of the missing Coagulation factor Hemophilia can be counteracted extremely efficiently and with little stress for the patient. Without major restrictions on everyday life, the therapy is thus primarily prophylactic. Required proteins are embedded here from the purified blood of various canned foods and blood stores to the individual physical needs of the subject.
Despite advanced medicine, it is recommended that body-weighted and distressing sports how to avoid athletics or martial arts.
The hemophilia certainly attracts some anatomical consequences with himself. In favorable cases, orthopedic devices such as special shoes or walking aids are enough for coping with everyday life. Nevertheless, there are some cases where one surgery and thus a joint replacement remained essential.
Due to potentially possible abnormalities In terms of bone structure or muscle, hemophilia can also result in lengthy physiotherapy for the patient. According to recent findings, a cure of hemophilia is not possible.
However, the medical options allow those affected almost uninfluenced life with the disease. On-demand treatment after the onset of a symptom or continuous treatment with intravenously injected factor concentrate is determined by the attending physician according to personal needs.
Overall, the treatment methods has been increasingly improved over the past decades. For this reason, sufferers can often lead a relatively normal life.
In addition, there are several research projects, who deal with new forms of therapy or a simplification of current therapies.
The most promising tests are shown here Genetic Engineering. Here, for example, mutated genes are to be repaired, so that afterwards a normal coagulation factor production should be possible.
However, most approaches to gene therapy are currently still in the pipeline phase of development. In the coming years, however, this could bring about new treatments or even a cure.
Hemophilia Prevention – Possible prevention measures
An actual prevention of hemophilia is of course not possible. After all, it is a hereditary disease that occurs independently of one’s own behavior insofar as the responsible mutation gene was inherited.
However, there are ways that Prevent spread of the disease. If a person has noticed that in the family history several persons were born with haemophilia or they themselves suffer from this disease, then a human geneticist can be visited. Together with the partner, he uses genetic tests to calculate the likelihood that offspring will develop hemophilia.
Subsequently, it is up to the parents to decide whether to give up their own children or risk their child’s illness. However, with hemophilia quality of life, as well as their average life expectancy, is minimized thanks to modern treatments, avoidance of pregnancy in the case of hemophilia risk is not mandatory.
Other preventive measures concern the stability of the health of those affected. This includes, for example, that none Painkiller be taken. Especially aspirin and ibuprofen, which are available without a prescription and are often consumed by many people, are considered dangerous for people with hemophilia.
In addition, in hemophilia are also contraindicated activities with a high probability for diverse trauma and injury, like motorcycling and skateboarding.
Popular sports with a lot of physical contact with others and an increased risk of injury such as American football, hockey, boxing, wrestling and rugby or certain martial arts should rather not be operated by people with hemophilia.
Other active sports such as football, baseball and basketball also have one high injury rate, However, all in all, they have less contact with players who may end up traumatized and may be treated with caution and only in consultation with a doctor.
suitable However, for people with hemophilia, sports activities that spare the body and prevent serious injury are unlikely. For this example, swimming is suitable. This sport is also considered gentle on the joints, which can be beneficial for hemophilia patients who have already bleeding into the joints and are therefore physically limited.
Prognosis for healing
At this point, it should first be noted that hemophilia is still not curable and only the symptoms can be treated. As with most aspects of the disease, life expectancy varies according to severity and adequate treatment.
People with severe hemophilia who do not receive adequate, modern treatment have a much shorter lifespan and often do not reach sexual maturity. Before the 1960s, when effective treatment was not yet available, the average life expectancy was only 11 years.
In the 1980s, the life expectancy of the average hemophiliacs who received appropriate treatment was already 50 to even 60 years. Today, haemophiliacs with appropriate treatment typically have a near-normal quality of life with an average lifespan that is only about 10 years shorter than that of an unaffected man.
However, people who have only a mild form of hemophilia are not limited in terms of their quality of life and life expectancy. Often no preventive therapy is necessary here.
Replacement factors intended to cause coagulation are given to such patients on their own prior to surgery or acute injury. As a result, these people are not confronted with the side effects of frequent blood transfusions.
causes of death
Since the 1980s, the primary cause of death of people with severe hemophilia has become bleeding contagions with HIV or AIDS or others infectious diseases postponed. These are caused by a treatment with contaminated blood products.
Even today, despite the screening and testing of blood samples, particularly in countries with low safety standards, contaminated samples can be administered. In Germany this is comparatively unlikely. However, it is always possible that still unknown pathogens are passed on by means of transfusion.
Healthy liver and liver with cirrhosis
The second most frequent cause of death in severe hemophilia complications is the intracranial hemorrhage, which today accounts for one-third of all deaths in people with hemophilia.
Two other major causes of death Blocking are airways for internal bleeding as well as hepatitis infections that lead to cirrhosis of the liver.
Two studies conducted in the Netherlands have investigated hemophilia patients over a period of several years. Both studies found that viral infections were common in hemophiliacs due to frequent blood transfusions. The life expectancy of men was about 59 years.
On the other hand, if no viral infection was transmitted, patients could become around 75 years old. However, these statistics for the prognosis are unreliable as a significant improvement in the control of infection and the efficacy of antiretroviral drugs has been reported since these studies were conducted. Overall, the prognosis for hemophilia is therefore good in western countries.
History of hemophilia
Although haemophilia is a very rare hereditary disease, it is still known to most people, at least as hemophilia. It is also quite common in the media and is featured in medical series or historical films.
This is probably due to the relatively interesting history of this disease. The first mentions of hemophilia are already evident in the fifth century in the Talmud.
10 – 18 century.
Specifically, the suffering is described later by the Andalusian doctor Abulcasis, who has become known mainly for his invention of surgical instruments for Kautarisation (tissue removal and stopping bleeding by burning). In the tenth century he described families whose men died of bleeding after only minor trauma.
While many other such descriptive and practical references to the disease appear in later historical writings, scientific analysis began only at the beginning of the nineteenth century.
In 1803, John Conrad Otto, a Philadelphia doctor, wrote a report on a family whose members are suffering from profuse bleeding, which can be breastfed worse than usual and also occur spontaneously.
The affected men referred to Otto as a hemophiliac. He realized that the disorder was hereditary, affecting mainly men, but passed down by healthy women. His work was the second paper describing important features of an X-linked genetic disorder.
The first paper is a description of the color blindness of John Dalton, who studied his own family. Since the mechanisms of inheritance in color blindness and hemophilia are the same, Otto Dalton’s study could certainly be used as a template.
Otto traced the disease back to a woman who settled in 1720 near Plymouth in the United States. However, the idea that affected men could pass on the property to their unaffected daughters did not come to him.
This was not described until 1813, when John F. Hay published a report on this in an English medical journal. This eventually led other doctors to deal with the issue of hemophilia, which led to the discovery of other bleeding disorders.
For example, a Finnish physician discovered a similar hereditary bleeding disorder in the 1820s, more commonly found in southwestern Finland. This was the so-called von Willebrand disease (also Willebrand-Jürgens syndrome), which is also due to a functional impairment of the coagulation factors.
Up to Beginning of the 19th century Haemophilia was predominantly referred to as hemophilia. It was not until 1828 that the term hemophilia, which is still used today, became established. This is derived from the term hemorrhage, and was first used by the Swiss physician Friedrich Hopff.
Although the physicians of the time were able to deduce the exact mechanism of action, they remained undetected until the 20th century. Only in the 1930s, the two American doctors Patek and Taylor discovered the antihemophilic globulin.
This test consisted of transferring hemophiliac blood to another hemophiliac. The fact that this corrected the coagulation problem showed that there was more than one form of hemophilia. This finally allowed more specific therapies to be developed. The delivery of donor blood containing coagulation factors has become the standard treatment for hemophilia.
Transfusion therapy has long been considered a very safe treatment. In the 1980s, however, the case of boy Ryan White caused a scandal that led to innovations in therapy. Ryan White was an American hemophile who became infected with HIV at the age of 13 through contaminated blood products.
By the end of 1985, many people with hemophilia were given coagulation factor products that posed a risk for HIV and hepatitis C infection. The plasma used to make the preserved blood was neither screened nor tested, nor were most products virally inactivated.
By the time this was recognized, tens of thousands worldwide were already infected as a result of contaminated factor products. After that, scientists persistently worked on various methods of examining blood samples and killing possible pathogens. Nevertheless, blood preserves remained dangerous until the end of the 80s. Today, infection as a result of blood transfusion represents a relatively low risk.
Hemophilia – the royal disease
For most people, hemophilia is not only known for the blood transfusion scandal in the late 1980s, but because of many haemophilia cases in aristocratic homes. This prejudice is actually based on historical facts. Haemophilia actually played an important role in the European royal family and is therefore sometimes referred to as a royal disease.
Carrier of the gene mutation of the X chromosome was demonstrable Victoria the Queen of England. She passed on the mutation for hemophilia B to her son Leopold and, through two of her daughters, Alice and Beatrice, to various royals throughout the European continent. This included the King Family from Spain, Germany and Russia.
In Russia Alexey Nikolaevich Romanov, the son and heir of Tsar Nicholas II, was known to suffer from hemophilia, which he had received from his mother, Empress Alexandra, one of Queen Victoria’s granddaughters.
The hemophilia of Alexei was used to form the Russian mystic Grigori Rasputin at the imperial court. It has been claimed that Rasputin has successfully treated the hemophilia of Alexei.
At that time, the usual treatment of aspirin was done by professional doctors, which aggravated rather than worsened the problem. It is believed that by working simply against medical treatment, Rasputin has made a visible and significant improvement in the condition of Alexei Nikolaevich. In retrospect, the son of the last Tsar was considered very lively.
For this reason, it is believed that he suffered only from moderate hemophilia. This was nevertheless guarded as a state secret. However, when the German Kaiser Wilhelm II visited Russia, the disease could no longer be hidden from him, as he himself had hemophiliacs in his family and immediately recognized the corresponding signs.
In Spain had Queen Victoria’s youngest daughter, Princess Beatrice, a daughter Victoria Eugenie von Battenberg, who later became Queen of Spain. Two of her sons were hemophiles and both died from minor car accidents:
Her eldest son, Prince Alfonso of Spain, died at the age of 31 of internal bleeding after his car hit a telephone booth. Her youngest son, Don Gonzalo, died of stomach ache at the age of 19, after a minor car accident in which he and his sister collided against a wall.
No one seemed injured or sought immediate medical attention. Gonzalo died of internal bleeding two days later. Again, historians suspect that there was a mild form of hemophilia.
No living member of the current or former ruling dynasties Europe It is known to have symptoms of hemophilia, or it is believed that it carries the gene in it.
The last descendant of Victoria, who is known to be suffering from the disease, is Don Gonzalo, although since his birth in 1914, dozens of descendants of Queen Victoria were born. This also applies to male descendants of potential wearers.
However, hemophilia is usually hidden in women who only inherit the gene from a parent. Consequently, there is still a chance that hemophilia will continue to exist in the aristocratic circles and the disease will once again erupt.
This is particularly likely in offspring of Princess Beatrice, the youngest daughter of Queen Victoria. It is considered a proven carrier of the mutation gene. Marriage within noble circles can easily lead to hereditary diseases.
After all, incest is likely here in the broadest sense, which is derived from the fact that was married within noble families over the centuries, with each other. This could now also favor the occurrence of hemophilia.
Are there alternative treatments for hemophilia?
This is mainly because the therapy in this disease is not directed against the actual cause, but against specific symptoms. A replacement of the missing blood coagulation factors is afterwards unavoidable, but can hardly be given with home remedies or alternative therapies. However, some methods of attendant treatment are suitable.
This concerns primarily the replacement of analgesics. The common drugs that are approved for the treatment of pain in Germany, can cause serious complications in hemophilia patients.
Among other things, aspirin and ibuprofen have a blood-thinning effect and lead to an increased probability of hemophilia bleeding. The light pain treatment can be carried out afterwards with herbs or essential oils.
But also heat treatments are possible. However, other pain therapies, such as acupuncture, are foreseeable. Here it comes to small injuries of the skin, which in turn can cause strong bleeding.
If a haemophilia suffer from bleeding into the joints, this often leads to the destruction of the cartilage tissue. For this reason, exercise therapies in this disease are an optimal adjunct to normal treatment.
Hemophilia home remedies
Helpful home remedies for hemophilia
Home remedies are basically not intended in the treatment of hemophilia. Here are usually only a few measures that serve to provide relief in pain, as common painkillers may not be taken.
In addition, it is recommended that health be kept as stable as possible. Again, there are preventive measures that can be easily adhered to.
- Heat treatment with hot water bottle or warm coils
- enough sleep
- Waiver of alcohol and cigarettes
- a healthy and balanced diet
- physical activity, such as swimming the walks (but no sport with high risk of injury)
The exact data on the dosage and the type of application can be found in the package leaflet or clarified with the responsible health practitioner.
medicinal herbs & medicinal plants
Medicinal herbs can take on different functions in hemophilia. On the one hand, various teas and tinctures can be used to relieve pain caused by bleeding or illnesses.
However, care should be taken that the plants used do not dilute the blood, as this increases the risk of bleeding and spontaneous bleeding episodes.
In addition to the treatment of pain, balancing the iron balance is also possible with medicinal herbs. Due to heavy bleeding this can be significantly lowered, which can lead to tiredness and difficulty concentrating. However, some plants can counteract this.
Medicinal plants recommended for the concomitant treatment of hemophilia include the following:
The exact data on the dosage and the type of application can be found in the package leaflet or clarified with the responsible health practitioner.
Just like medicinal herbs and medicinal plants, essential oils can also be used to combat pain. As a result, however, only limited success can be achieved. In addition, special care should always be taken when using such oils.
Many people, for example, can not tolerate the resulting vapors and react to oils with irritation of the mucous membranes, allergic reactions, dry eyes or breathing difficulties.
However, for those who tolerate oils, they can apply them to the skin in the form of tinctures or create a relaxing indoor climate by means of a fragrance lamp, which can reduce stress and thereby relieve pain.
The oils that may be used to treat hemophilia include the following:
The exact data on the dosage and the type of application can be found in the package leaflet or clarified with the responsible health practitioner.
homeopathy & globules
Homeopathic remedies have been on the rise for several years. Many people trust in globules rather than conventional medicine. In hemophilia, however, such is not replaceable. An accompanying therapy with homeopathic remedies can hardly be successful.
This is mainly due to the fact that active ingredients present in globules are present in a very low dose and are often so diluted that they can not have any measurable influence on the human body. For this reason, homeopathy can not be recommended at this point.
It is possible to take globules especially if pain relief is to be achieved and the patient believes in the successes of homeopathy. Under certain circumstances, the so-called placebo effect arises here. Means di eligible for this are, for example, the following:
Schüssler salts were developed at a time when modern medicine was still in its infancy and the body’s mechanisms of action were comparatively undetected.
For this reason, the basic assumption on which the development of the salts is based is fundamentally wrong: the physician Schuessler, who developed this method, believed that every disease was based on a deficiency of a particular mineral. After the supply of the missing substance, the illness should afterwards be considered cured.
Today, of course, it is known that this theory is baseless. Nevertheless, some people firmly believe in achieving health benefits with Schüssler salts.
Here, the placebo effect may provide real relief of pain or even symptom relief. With regard to hemophilia, however, Schüssler salts should only be taken concomitantly and after consultation with the attending physician.
Salts – List
- No. 2Calcium phosphoricum: Classically, this remedy is used more against toothache, nevertheless, it can also help with hemophilia remedy. Because it provides the body with important elements that it needs to restore or completely rebuild solid tissue. These include, among other things, overused lutic vessels.
- No. 13Kalium arsenicumAll in all, this remedy has a very stabilizing effect on the human organism and helps it recover better through rest. Not least because of this, it can be very helpful to give this medicine a chance, even though it does not directly correlate with the health of the blood.
- No. 17 Manganum sulfuricum: This is a means of strengthening the nerves. Since these are often very much overused in the case of diseases, it can not hurt to use the help of this Schüssler salt to promote the healing and accelerate in any case.
- No. 8 Sodium chloratum: This is a remedy that is very often used against common colds, but also against the loss of fluids in general. Not least because of this, it can be very important to give this drug a chance.
- No. 21 Zincum chloratum: This ingredient strengthens the immune system and promotes the healing of wounds and open areas. This can be very helpful especially for diseases with the blood. Treatment with this remedy is therefore highly recommended in the present disease and should be considered in any case.
diet & nutrition
Diet plays no essential role in terms of hemophilia. Although the human genetic apparatus is certainly influenced by food and can even be caused by contaminated food gene mutations, severe hemophilia is usually possible only through heredity.
Mild forms can also be caused by autoimmune diseases or cancer. In principle, no cases are known in which food intake has triggered haemophilia.
If a person already suffers from hemophilia, no cure or blatant symptom relief can be achieved with food. However, it is possible to keep your health stable through a balanced diet. Of course this also favors a treatment afterwards.
In addition, there are a few factors that can be quite interesting for hemophiles when eating. This includes, for example, that a normal weight is held. Many patients with severe hemophilia tend to bleed into the joints. These are heavily used in the episode.
overweight could affect this even further negatively. For this reason, doctors and nutritionists advise that a food diary be kept and portions always checked for the amount and calories contained.
iron & folic acid
Another problem can be with hemophiliacs iron deficiency represent. Especially if after a surgical procedure, the blood loss was correspondingly large, the iron balance can be compensated by appropriate food again. Among the cheap foods here include spinach, broccoli, fennel or beans.
Fiber-containing whole grains are also among the main suppliers of iron. Millet, lentils or oatmeal should therefore be on the menu. Animal foods are best consumed by the body in terms of iron content.
However, the fats contained in these products are also characterized by an increase in cholesterol levels. For this reason, try to consume meat only in moderation.
Small bleeding that occurs with regularity usually also leads to a decrease in folic acid levels. This usually worsens the well-being of those affected. Nutritionists advise for this reason to keep the folic acid level high enough fresh fruit and vegetables.
FAQ – questions & reply
Here are answers to frequently asked questions about hemophilia.
Incest – transmission?
If hemophilia is transmitted by incest?
The haemophilia is mainly known that it is widely used in European aristocratic homes. These are often associated with incestuous marriages. For this reason, it is suspected that hemophilia is a result of incest.
This assumption is not true. Hemophilia can also be inherited if only one parent carries the mutant X chromosome. For example, if the mother is a carrier, there is a 50% chance that her son will become a hemophiliac and an equally high risk that a daughter herself becomes the carrier of the mutated gene.
If the father is hemophilic, the son can not be, since he inherits from his father not the X but the Y chromosome. The daughter of a hemophile, however, will certainly become a carrier. If both parents have corresponding gene mutations, which may be the case irrespective of mutual relatives, the risk also increases for girls to develop hemophilia.
Consequently, it can be seen that haemophilia, like any other hereditary disease, may be favored in incest. However, an incestuous relationship is not mandatory for the development of this disease.
In addition, such a compound does not always have to develop a hereditary disease in the offspring. In this case also healthy children can be begotten. Only the probability of the occurrence of hereditary diseases, which are already common in the family, increases.
Are there gene therapies for the treatment of hemophilia?
Gene therapy is extensively researched and sometimes even used in many diseases that are based on mutations in the genetic material. This is also the case with regard to hemophilia.
In patients with severe hemophilia, gene therapy may reduce the symptoms to those that a mild or moderate person with hemophilia may have. The best results were achieved in hemophilia B..
Currently, various studies on the comprehensive use of gene therapies in humans are being researched. The first attempts are already completed and were able to achieve above-average results.
However, the technology has not yet matured and therefore can not yet be applied nationwide. However, physicians believe it is very likely that gene therapies will be established in the next few years and will certainly supplant or replace conventional medical approaches.
Hemophilia – Deadly?
Haemophilia is deadly?
Only a century ago, there was no adequate therapy to treat haemophilia and its symptoms accordingly. On the contrary, penicillin and aspirin were often used for therapy, which even negatively affected the disease.
Patients suffering from a severe form of hemophilia only managed to reach the age of 11 on average. Today, the situation is different. Thanks to the transfusion of blood coagulation factors that can compensate for the lack of it, most people can live a relatively normal life regardless of the disease.
Only with serious complications that are left untreated, a life threat is possible. However, most patients reach an almost average age. Hemophilia can not be classified as lethal for this reason.
Blood type crucial?
Does hemophilia depend on the particular blood group??
Human blood is made up of different elements. These include the red blood cells whose specific surface causes the classification in a blood group. The hemophilia is not bound to the red blood cells, but to the so-called coagulation factors, which are also part of the blood mixture.
These coagulation factors are always the same in healthy people. In hemophilia, however, a gene mutation results in either a specific coagulation factor not being formed or not being sufficiently produced. Consequently, a dependency on the blood group is involved, which means that every person who has an appropriately mutated gene can be affected by this disease.
Women also suffer from haemophilia?
As the coagulation factor is recessively inherited on the X chromosome, only males are affected by hemophilia. They have only one X chromosome, which is in any case active afterwards. On the other hand, girls and women have two X chromosomes.
The recessive gene variant, which is transmitted in hemophilia, is finally not used. Coagulation factors are thus formed by the healthy gene. This means that hemophilia in women occurs only when both chromosomes are damaged.
However, this presupposes that both father and mother are gene carriers. However, this combination is rarely found in practice, as hemophilia is a very rare hereditary disease altogether. Theoretically, there is the possibility that women also develop hemophilia.
Another possibility arises when, despite the recessive inheritance in carriers of the mutated gene, this is active. Here it comes to very mild forms of the disease, which usually only affect the person affected, if surgical procedures are performed or a serious injury exists. However, this variant is also rare to find.
Infection with AIDS?
Do you get AIDS from hemophilia treatment??
Hemophilia has also become known in the past because AIDS or HIV has been transmitted in the treatment of this disease. The reason for this is that HIV remained unexplored for a long time because this disease was discovered very late. In addition, a lot of myths about HIV. This included, for example, that it is a disease that occurs only among homosexual people.
Among other things, blood transfusions, which are routinely administered to heavy blood, have not been studied for the presence of HI viruses. For this reason, tens of thousands of hemophilia patients worldwide have been infected with the dangerous virus.
This triggered a scandal, but led to more intensive research into the preservation of blood. Since the 90s, a blood transfusion is therefore considered relatively safe. However, there is no 100% certainty that foreign blood does not contain any infectious agents. For this reason, artificial coagulation factors are used in the treatment of hemophiliacs.
Overall, therefore, that the hemophilia treatment does not lead to AIDS. Only in rare cases do contaminated canned foods cause infection with the HI virus or other diseases such as hepatitis.
Video on hemophilia
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