无效红细胞生成
地中海贫血
医学
贫血
红细胞生成
疾病
输血疗法
溶血性贫血
输血
螯合疗法
血液学
β地中海贫血
重症监护医学
免疫学
内科学
作者
Khaled M. Musallam,Maria Domenica Cappellini,Thomas D. Coates,Kevin H.M. Kuo,Hanny Al‐Samkari,Sujit Sheth,Vip Viprakasit,Alì Taher
标识
DOI:10.1016/j.blre.2023.101165
摘要
α-Thalassemia is an inherited blood disorder characterized by decreased synthesis of α-globin chains that results in an imbalance of α and β globin and thus varying degrees of ineffective erythropoiesis, decreased red blood cell (RBC) survival, chronic hemolytic anemia, and subsequent comorbidities. Clinical presentation varies depending on the genotype, ranging from a silent or mild carrier state to severe, transfusion-dependent or lethal disease. Management of patients with α-thalassemia is primarily supportive, addressing either symptoms (eg, RBC transfusions for anemia), complications of the disease, or its transfusion-dependence (eg, chelation therapy for iron overload). Several novel therapies are also in development, including curative gene manipulation techniques and disease modifying agents that target ineffective erythropoiesis and chronic hemolytic anemia. This review of α-thalassemia and its various manifestations provides practical information for clinicians who practice beyond those regions where it is found with high frequency.
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