Hemophilia: a rare hereditary disease


Hemophilia is a rare genetic disorder that causes hemorrhagic disorders. People with hemophilia take longer to heal during an injury and suffer from spontaneous bleeding. But there is not just one type of hemophilia, it can result from many factors and affect patients to varying degrees.

There are several wayshemophilia according to the deficit of the factor of coagulation. At thehemophilia type A, factor VIII is lacking, while in type B hemophilia factor IX. There is also a very rare form, hemophilia C, linked to the protein coagulation XI.

Most hemophilia affects boys because gene is transmitted by the Chromosome X. Girls should inherit two Chromosomes X carriers of the gene to have the disease, which is extremely rare. On the other hand, a woman carrying the hemophilia gene has a 50% chance of transmitting the disease to her child. It is usually not affected by the disease, but may have symptoms.

Incidence of hemophilia

One in every 5,000 male births has hemophilia A in the world, compared to one in 25,000 born with hemophilia B (one case of hemophilia B for five cases of hemophilia A). In one of the three cases, however, hemophilia is not linked to family history, but occurs spontaneously by a mutation of gene. Finally, there is acquired hemophilia, which usually occurs after 50 years of age. it is very rare form (one in a million people per year) is due to a sudden drop in coagulation factor VIII that is destroyed by antibody. Its causes are still unclear, although it is sometimes linked to rheumatoid arthritis.

Diagnosis and treatment of hemophilia

When there is a known family history of hemophilia, shielding before or after childbirth is usually done. O diagnosis to determine if the child has the disease, what type of hemophilia gravity, depending on the amount of coagulation factor absent. But the family history is not always known: that is why it is important to assess whether your child blunt frequent or abnormal bleeding.

O treatment The most common form of hemophilia is the administration of the replacement factor, administered as infusions. Other medications may also be used in some patients to prevent bleeding. Hemophilia is not a progressive disease and symptoms remain unchanged throughout life. Properly managed, however, patients can lead an almost normal life.

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