Hemophilia

Hemophilia - an incurable genetic disease associated with impaired blood coagulation (coagulation); this disease dramatically increases the risk of death from bleeding into the brain and other vital organs, even with minor trauma. Patients with severe hemophilia often undergo disability due to frequent hemorrhages in the joints (hemarthrosis) and muscle tissues (hematomas). Hemophilia occurs due to mutations in one of the genes, most often in the X chromosome. Depending on the particular gene, three types of hemophilia (A, B, C) are distinguished.
Hemophilia A is caused by a defective blood factor VIII protein, the so-called "classic hemophilia" (recessive mutation in the X chromosome)
Hemophilia B is caused by a defective blood factor IX (recessive mutation in the X chromosome)
Hemophilia C is caused by a defective blood factor XI, (an autosomal recessive mutation), known mainly in Jewish Ashkenazi. who do not suffer from the disease themselves but may give birth to sick sons or daughters- carrier. The most famous carrier of hemophilia in history was Queen Victoria; apparently, this mutation occurred in her genotype de novo, as hemophilia was not registered in the families of her parents. Hemophilia has suffered from one of Victoria's sons (Leopold, Duke of Albany), as well as a number of grandchildren and great-grandchildren - descendants of her daughters. from donor blood. Some hemophiliacs produce antibodies against this protein, leading to an increase in the required factor dose or the use of substitutes such as porcine factor VIII. In general, modern hemophiliacs, with proper treatment, live as much as healthy people. also
All-Ukrainian Society of Hemophilia
Danko Hemophilia Friends Charitable Foundation
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