期刊
AMERICAN JOURNAL OF HEMATOLOGY
卷 77, 期 2, 页码 198-199出版社
WILEY
DOI: 10.1002/ajh.20159
关键词
Glanzmann thrombasthenia; consanguineous marriage; genetic consultation
类别
Glanzmann thrombasthenia (GT) is a rare autosomal recessive disease characterized by prolonged bleeding time with normal platelet count and morphology. It is caused by the quantitative or qualitative deficiency of the platelet glycoprotein IIb-IIIa. In 382 Iranian patients with GT diagnosed at a single center during the period 1969-2001, consanguinity between parents was 86.6%, in accord with the high frequency of intrafamilial marriages in Iran. Almost all patients had had abnormal mucocutaneous bleeding (epistaxis and gum bleeding); at follow-up, 4/5 of the patients had been transfused at least once to control hemorrhagic episodes. As expected, almost all the patients had a normal platelet count while the leukocyte count was increased in 19.3%. Among women, an unexpected low rate of pregnancies was observed. (C) 2004 Wiley-Liss, Inc.
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