hematology and oncology
Hemophilia
Pathophysiology of Hemophilia
Normal hemostasis (see figure) occurs when factor VIII and IX levels are≥50% of normal. The gene abnormalities with severe hemophilia (factor levels<1%) are typically large deletions or inversions or point mutations that disrupt gene expression. In contrast, hemophilia that is mild or moderate typically involves with point mutations that result in an amino acid change (missense mutation). Sporadic cases of hemophilia A and B (where the female parent is not a carrier) are not unusual. In one study, 55% of patients with severe hemophilia A and 43% of patients with severe hemophilia B were sporadic cases. In mild and moderate hemophilia A and B, 30% of cases were sporadic ( Pathophysiology reference ). Most patients with hemophilia who were treated in the early 1980s were infected with Human Immunodeficiency Virus (HIV) Infection , 1.Kasper CK, Lin JC. Prevalence of sporadic and familial haemophilia.Haemophilia2007;13(1):90-92. doi:10.1111/j.1365-2516.2006.01397.x 