Factor XI deficiency in an Arab Moslem family in Israel.
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.
D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D005006:Ethnicity; D005173:Factor XI Deficiency / Q000235:genetics*; D005260:Female; D005786:Gene Expression Regulation; D005808:Genes, Recessive; D006801:Humans; D007514:Islam; D007557:Israel; D008297:Male; D010375:Pedigree