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Research progress of iron metabolism in phenotype modification of β-thalassemia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 27-31, 2021.
Article in Chinese | WPRIM | ID: wpr-879516
ABSTRACT
β-thalassemia is a type of inherited hemolytic anemia caused by decreased globin production due to defect of the HBB gene. The pathogenesis of the disease is imbalance of α/β globin chains. The excess of α-globin chains will form hemichromes which can damage red blood cell membranes and lead to hemolysis, ineffective erythropoiesis, and secondary iron overload. Iron overload in turn can cause complications such as growth retardation, liver cirrhosis, cardiac insufficiency, and aggravate the disease phenotype. In recent decades, genes participating in iron metabolism have been discovered, and the mechanism of iron metabolism in the development of thalassemia has gradually been elucidated. Subsequently, by manipulating the expression of key genes in iron metabolism such as hepcidin and transferrin receptor, researchers have revealed that iron restriction can improve ineffective hematopoiesis and iron overload, which may provide a potential approach for the treatment of thalassemia. This article reviews the progress of research on iron metabolism-related genes and related pathways in β-thalassemia.
Subject(s)
Full text: Available Index: WPRIM (Western Pacific) Main subject: Phenotype / Research / Beta-Thalassemia / Iron Overload / Iron Limits: Humans Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2021 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Phenotype / Research / Beta-Thalassemia / Iron Overload / Iron Limits: Humans Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2021 Type: Article