Format

Send to

Choose Destination
See comment in PubMed Commons below
Expert Rev Hematol. 2010 Feb;3(1):93-101. doi: 10.1586/ehm.09.68.

HIF pathway mutations and erythrocytosis.

Author information

  • 1Department of Haematology, Belfast City Hospital, Queen's University Belfast, Northern Ireland, UK. m.mcmullin@qub.ac.uk

Abstract

Erythrocytosis is present when there is an increase in the red cell mass, usually accompanied by an elevated hemoglobin and hematocrit. This occurs when there is an intrinsic defect in the erythroid component of the bone marrow or for secondary reasons when an increase in erythropoietin production drives red cell production. In normoxic conditions, HIF-α interacts with the other proteins in the HIF pathway and is destroyed, but in hypoxic conditions, HIF-α binds to HIF-β and alters the expression of downstream genes, including the erythropoietin gene. The end result is an increase in erythropoietin production. Mutations in any of the genes in the HIF pathway could lead to changed proteins, abnormalities in the degradation of HIF-α and, ultimately, result in increased erythropoietin levels. A number of mutations in the VHL, PHD2, and HIF2A genes have been identified in individuals. These mutations lead to erythrocytosis. The clinical results of these mutations may include some major thromboembolic events in young patients.

[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Taylor & Francis
    Loading ...
    Write to the Help Desk