Abstract
Hemophilia A and B are X-linked recessive disorders caused by deficiency of coagulation Factors VIII and IX, respectively. Hemophilia A occurs in 1 of 5032 live male births in the USA (Soucie et al. 1998), while hemophilia B is one-fifth as common. FIX is a serine protease, and FVIII is its cofactor in the activation of Factor X in the intrinsic pathway of the coagulation cascade. Deficiency of FVIII and FIX are clinically very similar. The diagnosis of hemophilia is suspected when bleeding symptoms develop or there is a positive family history in maternal male relatives. Diagnosis is confirmed by a prolonged aPTT and low levels of Factor VIII (FVIII) or Factor IX (FIX) activity measurement. The frequency of bleeding symptoms correlates well with measurement of factor activity. Patients with severe hemophilia (FVIII or FIX activity <0.01 IU/ml, 1 % of normal) usually have bleeding symptoms in the first 1–2 years of life, and on average 25 bleed annually when treated episodically. Patients with moderate hemophilia (FVIII or FIX activity 0.01–0.05 IU/ml, 1–5 % of normal) have a more variable course with fewer numbers of bleeding episodes, while patients with mild hemophilia (FVIII or FIX level >0.05 IU/ml, >5 % of normal) typically have bleeding only with trauma or surgery. The musculoskeletal system is the most common site of bleeding among hemophilia patients and is the major source of disease-related morbidity in patients who are inadequately treated. Intracranial hemorrhage occurs in up to 14 % of hemophilia patients (Eyster) and is associated with 18 % mortality (Nuss). Other common bleeding sites in hemophilia patients include gastrointestinal and genitourinary tracts.
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Brown, D. (2016). Hemophilia A and B: Diagnosis and Management. In: Abutalib, S., Connors, J., Ragni, M. (eds) Nonmalignant Hematology. Springer, Cham. https://doi.org/10.1007/978-3-319-30352-9_23
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