Disease burden, management strategies, and unmet needs in α-thalassemia due to hemoglobin H disease.
Journal
American journal of hematology
Journal Volume
99
Journal Issue
11
ISSN
1096-8652
Date Issued
2024-11
Author(s)
Abstract
Alpha-thalassemia is an inherited blood disorder caused by impaired α-globin chain production, leading to anemia and other complications. Hemoglobin H (HbH) disease is caused by a combination of mutations generally affecting the expression of three of four α-globin alleles; disease severity is highly heterogeneous, largely driven by genotype. Notably, non-deletional mutations cause a greater degree of ineffective erythropoiesis and hemolysis, higher transfusion burden, and increased complication risks versus deletional mutations. There are limited treatment options for HbH disease, and effective therapies are needed. This review discusses the pathophysiology of HbH disease, current management strategies, unmet needs, and emerging treatment options.
SDGs
Type
review article