Abstract
Hemophilia A (HA) and B (HB) are two X-linked recessive bleeding disorders caused by deficiencies of the corresponding coagulation factors VIII (FVIII) and IX (FIX). Affected individuals develop a variable degree of hemorrhaging, predominantly in joints and muscles. The severity of bleeding symptoms relates to the residual activity of clotting factors. Thus, patients with severe disease (FVIII:C/FIX:C<0.01 IU/dl) usually experience recurrent spontaneous bleeding episodes while mildly affected patients (FVIII:C/FIX:C >0.05 IU/dl) only bleed upon provocation.
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Ivaskevicius, V. et al. (2001). Lithuanian Hemophilia A and B Register Comprising Phenotypic and Genotypic Data. In: Scharrer, I., Schramm, W. (eds) 30th Hemophilia Symposium Hamburg 1999. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-18240-2_17
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DOI: https://doi.org/10.1007/978-3-642-18240-2_17
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