β地中海贫血是由于β珠蛋白基因缺陷导致β链合成障碍的遗传性疾病。据调查,本病在我国分布广泛,其发病率约为0.5%,广东、广西、四川和贵州等省的发病率较高。按照遗传方式和病情轻重的不同,临床上分为轻、中、重三种类型,其中以轻型者最为常见,重型者约占1/5。重型者由于β链合成障碍,使血红蛋白(Hb)A(α_2β_2)的合成减少,红细胞内的Hb含量不足,胞体变小,因而导致低色素小细胞性贫血。此外,多余的α链与γ链结合而致HbF(α_2γ_2)的合成增加;多余的α链沉积于幼红细胞中形成包涵体, Beta thalassemia is a genetic disorder that results in a disorder of beta chain synthesis due to a defective beta globin gene. According to the survey, the disease is widely distributed in China, the incidence rate of about 0.5%, Guangdong, Guangxi, Sichuan and Guizhou provinces higher incidence. In accordance with the mode of inheritance and the severity of the disease, the clinical is divided into light, medium and heavy three types, of which the most common type of light, heavy type accounts for about 1/5. In severe cases, the synthesis of hemoglobin (Hb) A (α_2β_2) is reduced due to the obstruction of β-chain synthesis, the Hb content in erythrocytes is insufficient, and the cell body becomes smaller, resulting in hypochromic small cell anemia. In addition, the excess α chain is combined with the γ chain to increase the synthesis of HbF (α_2γ_2); the excess α chain is deposited in the erythrocytes to form inclusion bodies,