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

## TL;DR

A 13-year-old Saudi boy with anemia and bleeding was found to have a rare genetic disorder caused by a mutation in the MPIG6B gene.

## Contribution

This case report identifies a novel homozygous mutation in the MPIG6B gene in a Saudi patient with THAMY syndrome.

## Key findings

- The patient exhibited macrothrombocytopenia, anemia, and splenomegaly consistent with THAMY syndrome.
- Bone marrow biopsy confirmed focal myelofibrosis, and genetic testing identified the c.523C>T variant in the MPIG6B gene.
- The case highlights the importance of genetic testing in diagnosing rare inherited blood disorders.

## 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.