Hemophilia

General description of the disease

It is a rare hereditary blood disorder in which blood clotting problems are observed.

Types of hemophilia

Hemophilia is a genetic disorder in which one gene on the X chromosome changes. Depending on which gene has mutated, a separate type of disease is distinguished. Hemophilia is of three types: A, B, C.

• Type A – there is no special protein in the blood: antihemophilic globulin, factor VIII of blood clotting. This gene defect occurs in 85% of patients and is considered classic.
• Type B – factor IX is not active enough, due to which the process of formation of the secondary clotting plug is disrupted.
• Type C – hemophilia of this type occurs due to an insufficient amount of XI coagulation factor. Type C is a very rare type, which mainly affected Ashkenazi Jews. Both women and men can be ill with it. At the moment, this type has been excluded from the classification due to the fact that its symptoms are very different from the first two types.

Causes of the disease

The main reason for the development of hemophilia is considered a hereditary factor.

Cases are extremely rare “spontaneous hemophilia“. She appears suddenly, although the family did not have this disease before. Subsequently, this form of hemophilia is transmitted traditionally – at the genetic level. Medical professionals have not yet identified the exact reasons for the development of the disease. They believe that this is a new gene mutation.

The likelihood of inheriting hemophilia

Mostly men suffer from this disease. The disease is transmitted to the male sex in a recessive manner (linked to the X chromosome). If the son has inherited the maternal X – chromosome, he does not get hemophilia. Women are given the role of “conductor” or carrier, but there may be exceptions. If the father is sick with hemophilia, and the mother is a carrier, then such parents may have a girl suffering from this ailment. In total, about 60 cases have been registered in the world in which girls suffered from hemophilia, and were not carriers.

There are 3 variants of transmission of hemophilia

1. 1 The mother is the carrier of the gene, but the father is a healthy man. In this case, 4 outcomes are possible, with a probability of 25%. A healthy son or a healthy daughter, a sick son or a carrier daughter may be born.
2. 2 Mother is healthy, father is sick with hemophilia. In this situation, all sons will be healthy, and all daughters will become carriers.
3. 3 The mother is the carrier of the gene, and the father is sick. In this variant, there can be 4 outcomes: a healthy son, a sick daughter, a sick son, or a carrier daughter. Each outcome has equal strengths.

Symptoms of hemophilia

In hemophilia, excessive bleeding is observed, which occurs periodically with different localization during various injuries, medical procedures (especially intramuscular injections and surgical interventions), and when teeth are extracted.

Gum or nosebleeds are very difficult to stop. Also, spontaneous bleeding may begin.

With minor injuries and bruises, a large hematoma is formed.

The main feature of hemophilia is intra-articular bleeding – hemarthrosis. When they appear in the joint, mobility is impaired, swelling occurs. All this is accompanied by severe pain. After the first such bleeding, the blood in the joint dissolves on its own and the functionality of the joint is restored. But with repetition, clots form on the joint capsule and cartilage, which are covered with connective tissue. Ankylosis develops due to such processes.

Another important sign in hemophilia is the late, delayed nature of bleeding. Bleeding does not open immediately after injury, but after a certain period of time. This is due to the fact that initially the bleeding is stopped by platelets, the composition of which is not changed. It can take from 6 to 12 hours before bleeding opens – it all depends on the severity of the disease.

There may still be blood in the urine or feces. The most difficult and deadly sign of hemophilia is a hemorrhage in the spinal cord or brain.

For children, hemophilia may take a long time to develop. This applies to babies who are breastfed by the mother. Indeed, in breast milk there are special substances that support the ability of blood to clot normally. Therefore, the longer the mother breastfeeds the baby, the later the first signs will appear.

Forms of hemophilia

Depending on the severity of the disease, 3 forms of hemophilia are distinguished.

• RџSЂRё mild hemophilia bleeding occurs only during surgery or after severe trauma. In the blood, the coagulation factor is contained in an amount of 5-25%.
• RџSЂRё moderate course hemophilia clotting factor in the blood is contained at a level of 1 to 5%. The first clinical signs can be detected at an early age. For this form, bleeding is inherent in moderate injuries, and with minor bruises, severe hematomas occur.
• RџSЂRё severe form diseases, the blood contains a coagulation factor of less than 1%. In this case, hemophilia manifests itself in the first months of life – during teething, bleeding opens, and at the first attempts to walk, severe and extensive hematomas appear (during crawling, due to snagging of any objects or falls).

Known patients and carriers of hemophilia

Queen Victoria is considered the most famous carrier of hemophilia in history. Moreover, it is not reliably known for what reasons she became such. After all, before that, no one in the family suffered from this ailment. There are 2 versions.

The first agrees that her father could have been some other man who suffered from hemophilia, and not the Duke of Kent Edward Augustus. But there is no documentary evidence.

Therefore, a second version has been put forward – Victoria has a mutation in her genes. That is, she had a “spontaneous” form of hemophilia. And according to the usual principle, hemophilia was inherited by her son – the Duke of Albany, Leopold and some grandchildren and great-grandchildren.

Hemophilia is considered the disease of kings. This fact is explained by the fact that earlier, for the sake of preserving the title, marriages with close relatives were allowed. Therefore, the likelihood of having sick children at court increased significantly.

The myth of hemophilia

There is a myth that a person with hemophilia can bleed to death at the slightest damage to the skin. This statement is far from true, and for such people, minor scratches and cuts do not pose a mortal danger.

Dangers are surgical interventions, pulling out teeth, vaccinations and spontaneous bleeding into muscles and blood vessels, which occur due to weak vascular walls in patients.

Attention!

The administration is not responsible for any attempt to use the information provided, and does not guarantee that it will not harm you personally. The materials cannot be used to prescribe treatment and make a diagnosis. Always consult your specialist doctor!