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Hereditary Factor VII and IX Deficiencies in a Large Kindred
Author(s) -
Hall C. A.,
London A. R.,
Moynihan A. C.,
Dodds W. J.
Publication year - 1975
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1975.tb01826.x
Subject(s) - haemophilia , factor ix , haemophilia b , heterozygote advantage , haemophilia a , medicine , confidence interval , population , coagulopathy , factor vii , risk factor , pediatrics , immunology , genetics , biology , genotype , coagulation , environmental health , gene
S ummary . A large kindred with combined deficiencies of factors VII and IX is presented. The deficiencies appeared to be independent and the data were not consistent with a diagnosis of haemophilia B M . The identification of mildly affected family members, including carriers of haemophilia B and heterozygotes for factor‐VII deficiency, was facilitated by comparison with the 95% confidence interval of an age‐ and sex‐matched control population. The bleeding patterns were those of mild to moderate haemophilia B and did not appear to have been modified by the presence of factor‐VII deficiency.