Egyptian Journal of Medical Human Genetics

Log in or Register to get access to full text downloads.

Remember me or Register

Case Report: A novel MYH9 mutation in a beta thalassemia major patient with thrombocytopenia

Didem Torun Özkan, Nejat Akar


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.

Keywords: Thrombocytopenia Beta thalassemia MYH9 gene

AJOL African Journals Online