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Hageman Factor (Factor XII) in an Affected Kindred and in Normal Adults
Author(s) -
Kasper C. K.,
Whissell Buechy D. Y. E.,
Aggeler P. M.
Publication year - 1968
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.1365-2141.1968.tb07006.x
Subject(s) - factor xii , medicine , thromboplastin , genotype , partial thromboplastin time , allele , endocrinology , factor vii , factor xi , coagulation , genetics , biology , gene
S ummary . Assays for Hageman‐factor (Factor‐XII) activity were performed on plasma obtained from 80 normal adults and from 39 members of an inbred kindred including a subject with severe Factor‐XII deficiency. Two normal alleles of the gene governing Factor‐XII production are postulated: H h , associated with higher levels of Factor XII, and H 1 , associated with lower levels of Factor XII. In addition, the existence of two abnormal alleles is suggested: H o , associated with almost no Factor‐XII activity, and H m , with moderate Factor‐XII deficiency. Based on this hypothesis, the mother of the proposita (with 13 per cent Factor‐XII activity) has a probable H 1 H o genotype. The father (with 58 per cent Factor‐XII activity) has a probable H h H o genotype. As well as a plasma Factor‐XII activity of 13 per cent, the mother of the proposita had a prolonged partial thromboplastin time, but no other abnormalities were observed in non‐specific coagulation tests. The results of all these tests, including the partial thromboplastin time, were normal in subjects with Factor‐XII levels of 22 per cent or more.