期刊
BRITISH JOURNAL OF HAEMATOLOGY
卷 117, 期 1, 页码 164-167出版社
BLACKWELL PUBLISHING LTD
DOI: 10.1046/j.1365-2141.2002.03385.x
关键词
May-Hegglin anomaly; Fechtner syndrome; non-muscle myosin; MYH9 gene; macrothrombocytopenia
类别
资金
- Telethon [GP0019Y01, TGM06S01] Funding Source: Medline
May-Hegglin anomaly (MHA), Sebastian syndrome (SBS) and Fechtner syndrome (FTNS) are autosomal-dominant macrothrombocytopenias with Dohle-like leucocyte inclusions. These diseases are due to mutations of the MHY9 gene, encoding the heavy chain of non-muscle myosin IIA (NMMHC-A). We investigated the NMMHC-A localization in blood cells from eight MHA, SBS or FTNS patients with known MYH9 mutations. All the patients showed an altered localization of NMMHC-A in granulocytes and platelets, suggesting that Dohle-like bodies are due to the aggregation of NMMHC-A in the cytoplasm. Therefore, immunocytochemistry for NMMHC-A is a simple and sensitive method to detect pathological phenotypes of granulocytes and platelets in the diagnosis of MYH9 -related disorders.
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