TY - JOUR
T1 - Factor XI deficiency in an arab moslem family in Israel
AU - AGHAI, E.
AU - YANIV, I.
AU - DAVID, M.
PY - 1984/3
Y1 - 1984/3
N2 - 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.
AB - 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.
KW - blood coagulation factors
KW - genetics
UR - http://www.scopus.com/inward/record.url?scp=0021343125&partnerID=8YFLogxK
U2 - 10.1111/j.1600-0609.1984.tb01699.x
DO - 10.1111/j.1600-0609.1984.tb01699.x
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AN - SCOPUS:0021343125
SN - 0036-553X
VL - 32
SP - 327
EP - 331
JO - Scandinavian Journal of Haematology
JF - Scandinavian Journal of Haematology
IS - 3
ER -