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

@article{Balduini2011RecentAI,
  title={Recent advances in the understanding and management of MYH9‐related inherited thrombocytopenias},
  author={Carlo L. Balduini and Alessandro Pecci and Anna Savoia},
  journal={British Journal of Haematology},
  year={2011},
  volume={154}
}
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… Expand
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TLDR
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TLDR
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TLDR
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TLDR
In any individual with persistent macrothrombocytopenia and no response to corticosteroids and immunosuppressive agents, even if neutrophil inclusions were inconspicuous in routine staining, MYH9-RD should be suspected. Expand
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The MYH9 gene was analyzed in five German families with suspectedMYH9RD because of the presence of myosin-9 aggregates in neutrophils and all nonsense or frameshift mutations reported so far for patients with MYH 9RD are located in this region and are predicted to have a good prognosis concerning the risk of non-hematologic manifestations. Expand
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TLDR
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TLDR
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The term “MHY9-related disease,” which better interprets the recent knowledge in this field and identifies all patients at risk of developing renal, hearing, or visual defects, is proposed. Expand
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TLDR
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TLDR
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