Analysis of clinical manifestations, mutant gene and encoded protein in two Chinese MYH9-related disease families.

Background: MYH9-related disease is a rare autosomal dominant disorder characterized by the triad of giant platelet, thrombocytopenia and inclusion bodies in neutrophil. In recent years, much progress has been made in the investigation of its clinical feature and pathogenesis.

Methods: Clinical manifestations were analyzed in two Chinese MYH9-related disease families.

[Clinical and molecular-biological study of a May-Hegglin anomaly family].

Objective: To study the changes of platelet in May-Hegglin anomaly (MHA) and the molecular pathogenesis mechanism.

Methods: Peripheral blood was drawn from the MHA proband, her father and her uncle. Platelet count and morphology were examined by automatic blood cell counter and microscopy, respectively.