Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias

Br J Haematol. 2011 Jul;154(2):161-74. doi: 10.1111/j.1365-2141.2011.08716.x. Epub 2011 May 4.


MYH9-related disease (MYH9-RD) is one of the most frequent forms of inherited thrombocytopenia. It is transmitted in an autosomal dominant fashion and derives from mutations of MYH9, the gene for the heavy chain of non-muscle myosin IIA. Patients present with congenital macrothrombocytopenia with mild bleeding tendency and may develop kidney dysfunction, deafness and cataracts later in life. The term MYH9-RD encompasses four autosomal-dominant thrombocytopenias that were previously described as distinct disorders, namely May-Hegglin Anomaly, Sebastian, Fechtner and Epstein syndromes. Thrombocytopenia is usually mild and derives from complex defects of megakaryocyte maturation and platelet formation. It is easily diagnosed, in that the presence of giant platelets in peripheral blood raises the suspicion of MYH9-RD and a simple immunofluorescence test on blood films confirms the diagnostic hypothesis. However, genotype/phenotype correlations have been recognized and mutation screening is therefore required to define the risk of acquiring extra-haematological defects. Results of a small clinical study suggested that a non-peptide thrombopoietin mimetic might greatly benefit both thrombocytopenia and bleeding tendency of MYH9-RD patients.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Disease Models, Animal
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Mice
  • Molecular Motor Proteins / genetics*
  • Mutation
  • Myosin Heavy Chains / genetics*
  • Myosin Type II / physiology
  • Phenotype
  • Thrombocytopenia / diagnosis
  • Thrombocytopenia / genetics*
  • Thrombocytopenia / therapy


  • MYH9 protein, human
  • Molecular Motor Proteins
  • Myosin Type II
  • Myosin Heavy Chains