Berg L P, Varon D, Martinowitz U, Wieland K, Kakkar V V, Cooper D N
Charter Molecular Genetics Laboratory, Thrombosis Research Institute, London, UK.
Blood Coagul Fibrinolysis. 1994 Feb;5(1):59-62. doi: 10.1097/00001721-199402000-00009.
Heterozygous factor XI deficiency occurs very frequently among Ashkenazi Jews. To investigate the potential influence of a co-inherited factor XI deficiency state on the clinical phenotype of mild/moderate haemophilia A, 28 unrelated haemophiliacs of Jewish origin were screened for the two most common factor XI gene mutations. Gene lesions were identified in two out of 14 patients of Ashkenazi origin. In the one family analysed further, co-inheritance of both factor XI and factor VIII deficiencies was associated with a bleeding tendency that was more severe than that associated with either deficiency alone.
