Synonyms
Classic hemophilia; Factor VIII deficiency
Definition and Characteristics
Lifelong hemorrhagic disorder, due to absence and/or functional defect in factor VIII molecule.
Prevalence
Rare disorder with an estimated incidence of 1 in 5,000–10,000 male births, in all ethnic groups in every part of the world.
Genes
Sex-linked recessive disorder; due to defective and/or deficient factor VIII molecules; all sons of affected hemophilic males are normal; all daughters are obligatory carriers of the factor VIII defect. Sons of carriers have a 50% chance of being affected, while daughters of carriers have a 50% chance of being carriers [1,2].
Gene map locus: Xq28.
Molecular and Systemic Pathophysiology
Cloning of the factor VIII gene eventually led to the possibility of finding mutations in patients with hemophilia A and specific mutations are now being used for antenatal diagnosis and carrier screening. Mutation analysis may also help to predict the chance of inhibitor formation (see...
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References
Boggio LN, Kessler CM (2007) Hemophilia A and B. In: Kitchens CS, Alving BM, Kessler CM (eds). Consultative Hemostasis and Thrombosis, 2nd Edition. Saunders Elsevier, Philadelphia, 45–60
Mannucci PM, Tuddenham EGD (2001) The hemophiliac – from royal genes to gene therapy. N Engl J Med 344:1773–1779
Bowen DJ (2002) Haemophilia A and haemophilia B: molecular insights. Mol Pathol 55:127–144
Kulkarni R, Aledort LM, Berntorp E et al. (2001) Therapeutic choices for patients with hemophilia and high titer inhibitors. Am J Hematol 67:240–246
High KA (2001) Gene transfer as an approach to treating hemophilia. Circ Res 88:137–144
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© 2009 Springer-Verlag GmbH Berlin Heidelberg
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Cate, H.t. (2009). Hemophilia A. In: Lang, F. (eds) Encyclopedia of Molecular Mechanisms of Disease. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-29676-8_764
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DOI: https://doi.org/10.1007/978-3-540-29676-8_764
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-540-67136-7
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