| Autor: |
Pecci, Alessandro, Noris, Patrizia, Invernizzi, Rosangela, Savoia, Anna, Seri, Marco, Ghiggeri, Gian Marco, Sartore, Saverio, Gangarossa, Simone, Bizzaro, Nicola, Balduini, Carlo L |
| Předmět: |
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| Zdroj: |
British Journal of Haematology; Apr2002, Vol. 117 Issue 1, p164-167, 5p |
| Abstrakt: |
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. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
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