Immunocytochemistry for the heavy chain of the non-muscle myosin IIA as a diagnostic tool for MYH9-related disorders

Alessandro Pecci, Patrizia Noris, Rosangela Invernizzi, Anna Savoia, Marco Seri, Gian Marco Ghiggeri, Saverio Sartore, Simone Gangarossa, Nicola Bizzaro, Carlo L. Balduini

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)164-167
Number of pages4
JournalBritish Journal of Haematology
Volume117
Issue number1
DOIs
Publication statusPublished - 2002

Keywords

  • Fechtner syndrome
  • Macrothrombocytopenia
  • May-Hegglin anomaly
  • MYH9 gene
  • Non-muscle myosin

ASJC Scopus subject areas

  • Hematology

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