Disease burden, management strategies, and unmet needs in α-thalassemia due to hemoglobin H disease
Issued Date
2024-01-01
Resource Type
ISSN
03618609
eISSN
10968652
Scopus ID
2-s2.0-85199065323
Journal Title
American Journal of Hematology
Rights Holder(s)
SCOPUS
Bibliographic Citation
American Journal of Hematology (2024)
Suggested Citation
Lal A., Viprakasit V., Vichinsky E., Lai Y., Lu M.Y., Kattamis A. Disease burden, management strategies, and unmet needs in α-thalassemia due to hemoglobin H disease. American Journal of Hematology (2024). doi:10.1002/ajh.27440 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/100026
Title
Disease burden, management strategies, and unmet needs in α-thalassemia due to hemoglobin H disease
Author(s)
Corresponding Author(s)
Other Contributor(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.