Those with hemoglobin H disease require occasional or even periodic transfusions due to chronic hemolytic anemia of variable severity ranging from asymptomatic to severe forms depending on the mutations or deletions involved.
Phenotype genotype correlation in hemoglobin H disease in childhood.
A subtype of hemoglobin H disease distinguished by life-threatening anemia during infectious illnesses should be recognized as a clinical entity distinct from other thalassemias, all of which are becoming more common in the United States, according to a single-center study.
In contrast, other hemoglobin H disease does not cause growth deficits or iron overload during childhood, and it rarely causes severe anemia, said Dr.
(9) However, Hb Hope has contributed to serious microcytic anemia when inherited in combination with a particular version of [alpha]-thalassemia called Hemoglobin H disease. HbH disease is a form of [alpha]-thalassemia in which three of four [alpha]-genes are mutated.
Similarly, a-chain hemoglobin variants that reduce hemoglobin synthesis can produce the [alpha]-thalassemia, hemoglobin H disease, when co-expressed with [alpha]-thalassemia minor.
The diagnosis of Hemoglobin H Disease
is often difficult, especially in those cases where red cell morphology is only slightly abnormal.