hemoglobin H disease
A form of alpha-thalassemia caused by the loss of three alpha-globin genes, resulting in moderate to severe anemia.
Full Definition
Hemoglobin H disease occurs when only one of the four alpha-globin genes is functional, leading to a severe deficiency of alpha-globin chains and the formation of unstable hemoglobin H (beta-4 tetramers). This condition causes moderate to severe hemolytic anemia, splenomegaly, and characteristic inclusion bodies visible on supravital staining. Unlike the more severe hydrops fetalis (which involves loss of all four alpha genes), hemoglobin H disease is compatible with life but requires ongoing medical management. Patients may need periodic blood transfusions and should avoid oxidative medications that can precipitate hemolysis.
Usage
Usage note: May be abbreviated as HbH disease; distinguish from other alpha-thalassemia variants.
In Context
- "Heinz body preparation revealed characteristic inclusions consistent with hemoglobin H disease." — hematology laboratory report
- "The patient with hemoglobin H disease was counseled to avoid oxidative medications." — genetic counseling summary