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Immunocytochemistry for the heavy chain of the non‐muscle myosin IIA as a diagnostic tool for MYH9 ‐related disorders
Author(s) -
Pecci Alessandro,
Noris Patrizia,
Invernizzi Rosangela,
Savoia Anna,
Seri Marco,
Ghiggeri Gian Marco,
Sartore Saverio,
Gangarossa Simone,
Bizzaro Nicola,
Balduini Carlo L.
Publication year - 2002
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.2002.03385.x
Subject(s) - immunocytochemistry , myosin , platelet , cytoplasm , biology , pathology , pathological , microbiology and biotechnology , immunology , medicine
Summary. May–Hegglin anomaly (MHA), Sebastian syndrome (SBS) and Fechtner syndrome (FTNS) are autosomal‐dominant macrothrombocytopenias with Döhle‐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 Döhle‐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.