The laboratory and clinical diagnosis strategy in MYH9 disorders / 中华检验医学杂志

ABSTRACT

Myosin heavy chain 9 (MYH9)disorders are a group of ihherited thrombocytopenias resulted from the mutation of MYH9 gene,including May-Hegglin anomaly,Epstein syndrome,Fechtner syndrome and Sebastian syndrome.MYH9 disorders are very often misdiagnosed as idiopathic thrombocytopenic purpura (ITP).For better understanding of MYH9 of clinical and laboratory and getting enough attention in clinical practice,this review will focus on the pathogenesis,clinical manifestations,laboratory examination and differential diagnosis.