Prevalence of sporadic and familial haemophilia

In an analysis of 804 haemophilia pedigrees, mild to moderate haemophilia A or B was found to be clearly familial in 70% of cases, severe haemophilia B in 57% of cases and severe haemophilia A in 45% of cases. The rest of the patients were ‘sporadic’ i.e., either isolated cases or brothers in the fi...

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Bibliographic Details
Published in:Haemophilia : the official journal of the World Federation of Hemophilia 2007-01, Vol.13 (1), p.90-92
Main Authors: KASPER, C. K., LIN, J. C.
Format: Article
Language:English
Subjects:
California - epidemiology
Carrier State
Female
hemophilia A
Hemophilia A - epidemiology
Hemophilia A - genetics
hemophilia B
Hemophilia B - epidemiology
Hemophilia B - genetics
hemophilia inheritance
Humans
Male
Mosaicism
Mutation
Pedigree
Prevalence
Retrospective Studies
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Summary:In an analysis of 804 haemophilia pedigrees, mild to moderate haemophilia A or B was found to be clearly familial in 70% of cases, severe haemophilia B in 57% of cases and severe haemophilia A in 45% of cases. The rest of the patients were ‘sporadic’ i.e., either isolated cases or brothers in the first affected sibship. In sporadic families, 88% of mothers but only 19% of maternal grandmothers had the relevant mutation in their white blood cells. Among patients with familial haemophilia, half the patients with mild haemophilia and those with severe haemophilia B had a direct male ancestor with haemophilia, but only 28% of patients with severe haemophilia A had such a progenitor.
ISSN:1351-8216
1365-2516
DOI:10.1111/j.1365-2516.2006.01397.x