Genetics of Hemophilia

Abstract

Hemophilia is one of the most frequently encountered congenital bleeding disorders worldwide. This disorder results from deficiencies in specific proteins, called clotting factors. Clotting factors are necessary for a fibrin plug formation at the site of injury, and prevention of blood loss. Deficiencies in the clotting factors result in decreased rate and amount of fibrin formation, as well as poor quality of the fibrin. Therefore, even when the fibrin plug is formed, it is unstable and may undergo an easy dissolution. Deficiency in factor VIII is termed Hemophilia A; deficiency in factor IX is known as Hemophilia B; and deficiency in factor XI is called Hemophilia C. Hemophilia A and Hemophilia B are both X-linked recessive disorders. Hemophilia C is an incompletely recessive autosomal trait and occurs very infrequently. Being X-linked disorders, hemophilia A and hemophilia B affect mostly males, as males carry only one copy of the X-chromosome. Females become affected only if they inherit gene for hemophilia from both the parents. Unlike hemophilia A or B, hemophilia C affects both genders equally.

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• Genetics and clinical features of the three different types of hemophilia
• Evolution of the three mutations for hemophilia
• Prevalence of hemophilia among various ethnic groups; relation between ethnicity and the most prevalent type of hemophilia
• Clinical treatment for hemophilia
• Gene therapy for hemophilia

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