ArticleCureus2024
A Rare MPIG6B Gene Mutation in a Saudi Adolescent Male With Thrombocytopenia, Anemia, and Myelofibrosis: A Case Report.
Article in Cureus, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
3 citing papers in PubMed, 0 citations in OpenAlex.
- Spleen-derived circulating intercellular adhesion molecule 2 promotes osteosclerosis in chronic myelofibrosis.Bone research · 2026Article
- MPIG6B-related thrombocytopenia and myelofibrosis: A case report.Annals of hematology · 2026Article
- A Comprehensive Review of Gene Mutations in Inherited Blood Disorders Among the Saudi Population.Human mutation · 2026Review
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
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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.
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