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N Engl J Med. 2008 Jan 10;358(2):162-8. doi: 10.1056/NEJMoa073123.

A gain-of-function mutation in the HIF2A gene in familial erythrocytosis.

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  • 1Belfast City Hospital, Northern Ireland, United Kingdom.


Hypoxia-inducible factor (HIF) alpha, which has three isoforms, is central to the continuous balancing of the supply and demand of oxygen throughout the body. HIF-alpha 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-2alpha protein. Our functional studies indicate that this mutation leads to stabilization of the HIF-2alpha protein and suggest that wild-type HIF-2alpha regulates erythropoietin production in adults.

2008 Massachusetts Medical Society

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