hemoglobin H disease


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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.

hemoglobin H disease

alpha-thalassemia in individuals heterozygous for hemoglobin H, characterized by chronic hemolytic anemia associated with splenomegaly. Red blood cell microcytosis and hypochromia are accompanied by inclusion bodies resembling Heinz bodies, detectable by supravital staining.

Hemoglobin H disease

A thalassemia-like syndrome causing moderate anemia and red blood cell abnormalities.
References in periodicals archive ?
The investigators were able to characterize the natural history of hemoglobin H disease and the subtype hemoglobin HCS among children in the United States for the first time largely because of newborn screening for the disorders, which has been done in California since 1998.
In the past, hemoglobin H disease has been prevalent in Asian and Mediterranean populations but rare in others.
All of the episodes of acute worsening of anemia requiring blood transfusions occurred in the HCS group, while the children with hemoglobin H disease "had a predictably benign course.
The diagnosis of Hemoglobin H Disease is confirmed by hemoglobin electrophoresis which shows a rapidly-moving hemoglobin, hemoglobin H