An X-linked recessive bleeding disorder caused by deficiency of clotting factor VIII. The most common severe inherited bleeding disorder, affecting approximately 1 in 5,000-10,000 male births. Characterized by spontaneous and trauma-induced bleeding, particularly into joints (hemarthrosis) and muscles.

• 1Activated partial thromboplastin time (aPTT)
• 2Factor VIII activity assay
• 3Factor VIII inhibitor screening
• 4Genetic testing for F8 gene mutations
• 5Prenatal diagnosis (CVS, amniocentesis)
• 6Carrier testing for female relatives

With modern prophylactic treatment starting in early childhood, life expectancy approaches normal. Prior to modern treatment, average life expectancy was 20-30 years. Joint damage (hemophilic arthropathy) is the major long-term complication if undertreated. Inhibitor development (30% with severe hemophilia) complicates treatment but emicizumab effective. Intracranial hemorrhage risk 5-10% over lifetime. Quality of life significantly improved with prophylaxis. Gene therapy may offer cure for some patients. Regular monitoring of factor levels and joint status essential.

• Prophylactic factor replacement from early childhood
• Avoiding high-impact sports
• Regular dental care to prevent bleeding
• Hepatitis A and B vaccination
• Genetic counseling for carriers
• Prenatal diagnosis when indicated
• Physical therapy to prevent joint damage