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Factor XI deficiency in an arab moslem family in Israel
Author(s) -
AGHAI E.,
YANIV I.,
DAVID M.
Publication year - 1984
Publication title -
scandinavian journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0036-553X
DOI - 10.1111/j.1600-0609.1984.tb01699.x
Subject(s) - grandparent , medicine , factor xi , iron deficiency , family studies , pediatrics , genetics , biology , anemia , coagulation , psychology , developmental psychology
An arab moslem family with members affected by PTA deficiency is described. 3 children were found to have major deficiency, factor XI procoagulant activity being 3, 3 and 4 units/dl. 8 members, including parents, paternal grandparents and 4 siblings, were found to have minor deficiency of factor XI (40 to 68 units/dl). Assays of immunoreactive material in 4 members corresponded to the level of procoagulant activity. In this family, gene expression is autosomal recessive. The only bleeding episode reported was haematuria in the propositus. No other spontaneous, post‐trauma or post‐operative bleeding was noted. The PTA deficiency was reported until now, mainly in ashkenazi jews. This family is the first case of PTA deficiency ever reported in arab moslems.