Ibarra B, Perea F J, Hernández-Córdova A
División de Genética, Unidad de Investigación Biomédica, CMO, IMSS, Guadalajara, Jalisco, México.
Arch Invest Med (Mex). 1990 Oct-Dec;21(4):357-62.
Thalassemia has been considered a recessive, autosomic, hereditary disease, characterized by microcytic, hypochromic, hemolytic anemia, which occurs as the consequence of a defect in the synthesis of the globin chains, the two most frequent types are thalassemias a and b, which in their most severe forms are known as Hydrops Fetalis and Major Thalassemia. The patients who bear thalassemia are concentrated to those places on earth where malaria is endemic, including the Mediterranean region, Northern Africa, The Middle East, India, China and Southern Asia. The simple Heterozygotic states in both types of thalassemia are more benign and may go unnoticed or confused with iron deficiency.
地中海贫血被认为是一种隐性常染色体遗传性疾病,其特征为小细胞低色素性溶血性贫血,这是由于珠蛋白链合成缺陷所致。最常见的两种类型是α地中海贫血和β地中海贫血,其最严重的形式分别称为胎儿水肿综合征和重型地中海贫血。携带地中海贫血的患者集中在地球上疟疾流行的地区,包括地中海地区、北非、中东、印度、中国和南亚。两种类型地中海贫血的单纯杂合子状态病情较为温和,可能未被注意到或与缺铁混淆。