Article
The heterozygote advantage of the Chuvash polycythemia VHLR200W mutation may be protection against anemia.
Haematologica - 1 Sept 2011
Miasnikova Galina Y, Sergueeva Adelina I, Nouraie Mehdi, Niu Xiaomei, Okhotin Daniel J, Polyakova Lydia A, Ganz Tomas, Prchal Josef T, Gordeuk Victor R
Abstract excerpt
The germ-line loss-of-function VHL(R200W) mutation is common in Chuvashia, Russia and occurs in other parts of the world. VHL(R200W) homozygotes have elevated hypoxia inducible factor (HIF)-1 and HIF-2 levels, increased hemoglobin concentration, propensity to thrombosis and early mortality. Because the mutation persists from an ancient origin, we hypothesized that there is a heterozygote advantage. Thirty-four...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.