地中海贫血是一类遗传性珠蛋白合成障碍致异常血红蛋白的溶血性贫血。由于基因缺陷和珠蛋白合成障碍程度不一其临床表现严重程度不同,重型地中海贫血是致死性疾病。重型α地中海贫血即Hb Bart’s综合征,常于孕中晚期流产、死胎或生后早期夭折。重型β地中海贫血是β0或β+纯合子或双重杂合子状态,β链 Thalassemia is a type of hereditary hemoglobin synthesis disorders caused by abnormal hemoglobin hemolytic anemia. Due to different levels of genetic defects and globin synthesis disorders of their clinical manifestations, thalassemia major is a lethal disease. Severe alpha thalassemia, Hb Bart’s syndrome, often in the second trimester of miscarriage, stillbirth or early death after birth. Beta-thalassemia major is β0 or β + homozygous or double heterozygous, β-chain