Hemophilia A and B

Hemophilia A and B are X-linked recessive bleeding disorders caused by inherited genetic mutations of the factor VIII (FVIII) and factor IX (FIX) genes on the X chromosome. However, 30% of hemophilia A and B are from sporadic mutations. Hemophilia comprises about 95% of inherited bleeding disorders. More than 1.2 million people worldwide are affected, mostly males because of their hemizygous state, but moderate-to-severe deficiencies can also be observed among females, resulting from extreme lyonization, Turner’s syndrome, or homozygosity from both parents. Treatment includes factor replacement therapies and nonfactor replacement therapies such as emicizumab, and desmopressin (DDAVP). Future treatment directions include gene therapies and cellular therapies.