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MPIG6B Gene-Related Myelofibrosis: A Rare Inherited Disease That Is Frequently Described in Arab Population

Leen Jihad Attar1, Almothana Alelaimat1, Alaa Alshorman2

  • 1Department of Hematopathology, The University of Jordan, Amman, Jordan.

Avicenna Journal of Medicine
|May 2, 2024
PubMed

Insights

A rare genetic mutation in the megakaryocyte and platelet inhibitory receptor gene (MPIG6B) caused severe thrombocytopenia, anemia, and hepatosplenomegaly in a young man. This second reported case highlights MPIG6B

Area of Science:

  • Hematology
  • Genetics
  • Molecular Biology

Background:

  • The megakaryocyte and platelet inhibitory receptor gene (MPIG6B) encodes G6b-B, an inhibitory receptor on platelets.
  • G6b-B plays a crucial role in regulating platelet production, aggregation, and activation.

Observation:

  • A 31-year-old male presented with chronic thrombocytopenia, anemia, and hepatosplenomegaly.
  • Bone marrow biopsy revealed features consistent with primary myelofibrosis.

Findings:

  • Whole exome sequencing identified a homozygous pathogenic mutation (c.324C>A, p.Cys108Ter) in exon 2 of the MPIG6B gene.
  • This represents the second reported case of MPIG6B mutation associated with these clinical features.

Implications:

  • This case expands the understanding of MPIG6B-related hematologic disorders.
  • Further research into MPIG6B function may reveal new therapeutic targets for platelet disorders.
Keywords:
MPIG6Banemiahepatosplenomegalymyelofibrosisthrombocytopenia

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