Thalassemias are a group of inherited autosomal recessive hematologic disorders that occur because of defects in the alpha (α)- and beta (β)-globin genes of adult hemoglobin (Hb). An imbalance in the synthesis of one or more of the globin chains can result in a wide spectrum of phenotypes depending on the type and amount of globin synthesized and additional genetic modifiers. In patients with thalassemia intermedia, a condition known as non-transfusion-dependent thalassemia (NTDT), transfusion requirements are absent or episodic. Non-transfusion-dependent thalassemia includes β-thalassemia intermedia, HbE β-thalassemia, and α-thalassemia intermedia, also known as Hb H disease. This article focuses on the molecular features and genetic mutations specific to NTDT.

中文翻译：

---

非输血性地中海贫血的分子理解的最新进展。

地中海贫血是由于成年血红蛋白（Hb）的alpha（α）-和beta（β）-globin基因缺陷而发生的一组遗传性常染色体隐性血液学疾病。一个或多个球蛋白链合成的不平衡会导致广泛的表型，这取决于合成的球蛋白的类型和数量以及其他遗传修饰因子。在患有中度地中海贫血的患者（一种称为非输血依赖型地中海贫血（NTDT）的疾病）中，没有输血需求或偶发性输血。非输血依赖性地中海贫血包括β-地中海贫血，HbEβ-地中海贫血和α-地中海贫血，也称为Hb H疾病。本文着重于NTDT的分子特征和遗传突变。