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

A thalassemia-like syndrome causing moderate anemia and red blood cell abnormalities.
References in periodicals archive ?
Genetic and clinical features of hemoglobin H disease in Chinesepatients.
Phenotypic and molecular diversity of hemoglobin H disease: A Greek experience.
Erythroid marrow activity and hemoglobin H levels in hemoglobin H disease. J Pediatr Hematol Oncol.
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." In HCS, the probability of requiring at least one transfusion before 1 year of age was 13%; this increased to 39% by the age of 5 years, 75% by the age of 10 years, and 80% by the age of 20 years.
The diagnosis of Hemoglobin H Disease is confirmed by hemoglobin electrophoresis which shows a rapidly-moving hemoglobin, hemoglobin H