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Prevalence of sporadic and familial haemophilia
Author(s) -
KASPER C. K.,
LIN J. C.
Publication year - 2007
Publication title -
haemophilia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.213
H-Index - 92
eISSN - 1365-2516
pISSN - 1351-8216
DOI - 10.1111/j.1365-2516.2006.01397.x
Subject(s) - haemophilia , haemophilia a , medicine , haemophilia b , pedigree chart , pediatrics , genetics , gene , biology
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.