MYH-9 associated congenital macrothrombocytopenias

MYH 9 associated congenital macrothrombocytopenias are important in an examination point of view. Let's look at different types, key differences and some multiple choice questions.

A diverse group of autosomal dominant syndromes, referred to as MYH9-related macrothrombocytopenias, include the

1. May-Hegglin anomaly,
2. Fechtner syndrome,
3. Epstein syndrome, and
4. Sebastian syndrome

These share features of increased platelet size, cytoplasmic inclusions in leukocytes (Döhle bodies), and premature release of platelets. These entities arise from mutations in MYH9 encoding the nonmuscle myosin heavy chain IIA, a contractile cytoskeletal protein. All of the MYH-9 syndromes have macrothrombocytopenia; other features such as nephritis, sensorineural deafness, and cataracts serve to distinguish them.

FIND A QUICK DIFFERENTIAL DIAGNOSIS OF ALL MYH 9 ASSOCIATED DISORDERS