MYH9-related disease

MYH9 related disease( MYH9-RD) is one of the most common types of genetic thrombocytopenia. This disorder is inheritated as an automosal dominant trait and is caused by mutations in MYH9, coding for the nonmuscle myosin ⅡA. The clinical features include sensorineural hearing loss, cataract, and progressive nephritis. It is an autosomal dominant disorder including four related syndromes, known as May-Hegglin anomaly, Sebastian syndrome, Epstein syndrome, and Fechtner syndrome. The thrombocytopenia is usually mild, and the suspected diagnosis is usually easy to make by recognizing abnormal giant platelets on blood smear. Furthermore, immunofluorescence is an important method for making a correct diagnosis. Recent studies demonstrated a correlation of genotype-phenotype with MYH9-RD. Clinical studies have shown that Eltrombopag could be effective for this disorder. Key words: Hereditary bleeding disorder; Thrombocytopenia; Nonmuscle myosin ⅡA; MYH9