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:: Volume 15, Issue 2 (Summer 2005) ::
MEDICAL SCIENCES 2005, 15(2): 95-99 Back to browse issues page
Determining the mutation and the first reports of May-Hegglin anomaly from Iran and the first homozygous E1841K mutations in the world
Poopak B 1, Yahyavi SH, Haghnejad Doshanlo F, Rezvani H, Martignetti J, Difeo A, Khosravipour G, Farahani K
Abstract:   (18433 Views)
May-Hegglin anomaly (MHA) is a rare autosomal disorder which is characterized by triad of thrombocytopenia, giant platelets and Dohle like inclusion bodies in granulocytes. This is the first report of MHA and its mutation from Iran. The specimen of two patients (father 51 and son 15 y/o) collected with EDTA and tri-sodium citrate anticoagulants. CBC and peripheral blood smear studied by automatic cell counter and microscopic examination, respectively. Direct sequencing of extracted DNA of certain exons of MYH9 gene was performed. Both patients had demonstrated the diagnostic triad of MHA. Mutations showed homozygous and heterozygous pattern in the father and the son, respectively. This is the first report of MHA from Iran. The mutation of both patients was E1841K which is the most common type among MYH9 mutations in MHA. The most interesting finding was the homozygous mutation that did not entail any clinical severity.
Keywords: May-Hegglin anomaly, E1841K mutation, thrombocytopenia, MYH9 gene.
Full-Text [PDF 453 kb]   (2736 Downloads)    
Subject: Nutrition Sciences
Received: 2006/09/6 | Published: 2005/06/15
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Poopak B, Yahyavi SH, Haghnejad Doshanlo F, Rezvani H, Martignetti J, Difeo A, et al . Determining the mutation and the first reports of May-Hegglin anomaly from Iran and the first homozygous E1841K mutations in the world . MEDICAL SCIENCES. 2005; 15 (2) :95-99
URL: http://tmuj.iautmu.ac.ir/article-1-273-en.html


Volume 15, Issue 2 (Summer 2005) Back to browse issues page
فصلنامه علوم پزشکی دانشگاه آزاد اسلامی واحد پزشکی تهران Medical Science Journal of Islamic Azad Univesity - Tehran Medical Branch
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