A Rare MPIG6B Gene Mutation in a Saudi Adolescent Male With Thrombocytopenia, Anemia, and Myelofibrosis: A Case Report.

ABSTRACT

Thrombocytopenia, anemia, and myelofibrosis (THAMY) is an exceptionally rare autosomal recessive inherited disorder that arises from pathogenic variations in the megakaryocyte platelet inhibitor G6B (MPIG6B) gene. The MPIG6B gene plays a crucial role in regulating platelet homeostasis. The hallmarks of THAMY are macrothrombocytopenia and focal myelofibrosis, accompanied by varying degrees of anemia, leukocytosis, splenomegaly, and a mild to moderate propensity to bleed. In this case report, we present the clinical details of a 13-year-old male who displayed symptoms of anemia and bleeding as a result of thrombocytopenia. Analysis of the peripheral blood smear revealed the presence of macrothrombocytes, while physical examination showed splenomegaly. To delve deeper into the matter, a bone marrow biopsy was conducted, which unequivocally confirmed the existence of focal myelofibrosis. Subsequent genetic analysis validated the homozygous variant c.523C>T in the MPIG6B gene.