Diagnosis and management of hemophilia A and B

Hemophilia A and hemophilia B are inherited bleeding disorders caused by a deficiency or absence of coagulation factor [F]VIII and FIX, respectively. The severity of bleeding manifestations generally correlates with the degree of factor deficiency, which is determined by the type of pathogenic variant in the F8 or F9 gene, both of which are located on the X-chromosome. The classical and most frequent site of bleeding is the musculoskeletal system, commonly into the ankle, knee, and elbow joints. Clinical diagnosis of hemophilia is typically confirmed through laboratory testing using 1-stage factor assays. The armamentarium of treatment includes desmopressin, FVIII/FIX concentrates, FVIII mimetics, rebalancing agents, and gene therapy. Despite advances in therapeutic options, hemophilic arthropathy remains a significant clinical complication. As life expectancy in persons with hemophilia increases, they become more susceptible to age-related comorbidities, including cardiovascular disease. Given the complex treatment modalities, hemophilia-specific complications, and quality-of-life concerns, optimal hemophilia care requires a multidisciplinary approach.