A novel MYH9 mutation in a beta thalassemia major patient with thrombocytopenia.

Abstract

Macrothrombocytopenia is a congenital autosomal dominant blood disorder characterized by increased platelet size and decreased number of circulating platelets (Althaus and Greinacher, 2009). Here, we report a 32 year old beta thalassemia major patient admitted to the hospital for the evaluation of low thrombocyte count. In this study, we aimed to analyze mutations in MYH9 gene in our patient, we found a T to G nucleotide change at 3814 in exon 25, resulting in a transition of Serine to Alanine (p.S1195A) in MYH9 gene (Fig. 1) This mutation is reported for the first time in our population and not defined at Human Gene Mutation Database (HGMD) previously.