Hemoglobin H disease

he·mo·glo·bin H

[MIM*142309]

a homotetramer of Hb (all four polypeptides identical) of molecular formula β₄, found only when α chain synthesis is depressed and not effective in oxygen transport. Hb H disease (α-thalassemia intermedia) is a thalassemialike syndrome in people heterozygous for both severe and mild genes for α-thalassemia; moderate anemia and red blood cell abnormalities with 25-35% Hb Bart at birth, but with Hb Bart later replaced by Hb H and with Hb A₂ decreased. Hb H shows no cooperativity with O₂ binding and does not exhibit a Bohr effect.

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Hemoglobin H disease

A thalassemia-like syndrome causing moderate anemia and red blood cell abnormalities.

Mentioned in: Hemoglobin Electrophoresis

Gale Encyclopedia of Medicine. Copyright 2008 The Gale Group, Inc. All rights reserved.