Article
Pulmonary artery pressure and iron deficiency in patients with upregulation of hypoxia sensing due to homozygous VHL(R200W) mutation (Chuvash polycythemia).
Haematologica - 1 Feb 2012
Sable Craig A, Aliyu Zakari Y, Dham Niti, Nouraie Mehdi, Sachdev Vandana, Sidenko Stanislav, Miasnikova Galina Y, Polyakova Lydia A, Sergueeva Adelina I, Okhotin Daniel J, Bushuev Vladimir, Remaley Alan T, Niu Xiaomei, Castro Oswaldo L, Gladwin Mark T, Kato Gregory J, Prchal Josef T, Gordeuk Victor R
Abstract excerpt
BACKGROUND: Patients with Chuvash polycythemia, (homozygosity for the R200W mutation in the von Hippel Lindau gene (VHL)), have elevated levels of hypoxia inducible factors HIF-1 and HIF-2, often become iron-deficient secondary to phlebotomy, and have elevated estimated pulmonary artery pressure by echocardiography. The objectives of this study were to provide a comprehensive echocardiographic assessment of...
Topics
- Adolescent
- Adult
- Anemia, Iron-Deficiency
- Case-Control Studies
- Child
- Cross-Sectional Studies
- Female
- Homozygote
- Humans