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Previous Volume 358:162-168 January 10, 2008 Number 2 Next

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SUMMARY

Hypoxia-inducible factor (HIF) , which has three isoforms, is central to the continuous balancing of the supply and demand of oxygen throughout the body. HIF- is a transcription factor that modulates a wide range of processes, including erythropoiesis, angiogenesis, and cellular metabolism. We describe a family with erythrocytosis and a mutation in the HIF2A gene, which encodes the HIF-2 protein. Our functional studies indicate that this mutation leads to stabilization of the HIF-2 protein and suggest that wild-type HIF-2 regulates erythropoietin production in adults.

Source Information

From Belfast City Hospital (M.J.P.) and the Centre for Cancer Research and Cell Biology, Queen's University (T.R.J.L., M.F.M.) — both in Belfast, Northern Ireland; University of Pennsylvania School of Medicine, Philadelphia (P.W.F., X.L., F.S.L.); and Manchester Royal Infirmary, Manchester, United Kingdom (G.S.L.).

Address reprint requests to Dr. Percy at the Department of Haematology, Floor C, Tower Block, Belfast City Hospital, Lisburn Rd., Belfast BT9 7AB, Northern Ireland, United Kingdom, or at melanie.percy{at}belfasttrust.hscni.net; or to Dr. Lee at the Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, 605 Stellar Chance Labs, 422 Curie Blvd., Philadelphia, PA 19104, or at franklee{at}mail.med.upenn.edu.

Full Text of this Article

Related Letters:

The HIF2A Gene in Familial Erythrocytosis
Eltzschig H. K., El Kasmi K. C., Eckle T., Prchal J. T., Gordeuk V. R., Perrotta S., Ragione F. D., Percy M. J., Lucas G. S., Lee F. S.
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N Engl J Med 2008; 358:1965-1967, May 1, 2008. Correspondence

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