Disease burden, management strategies, and unmet needs in α-thalassemia due to hemoglobin H disease.
Am J Hematol
; 2024 Jul 22.
Article
en En
| MEDLINE
| ID: mdl-39037279
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Idioma:
En
Revista:
Am J Hematol
Año:
2024
Tipo del documento:
Article
País de afiliación:
Estados Unidos