重型α地中海贫血是致死性遗传病,患病胎儿高度水肿、畸形,在出生前窒息死亡或出生后不久死亡。重型β地中海贫血患儿则需每月输血和去铁治疗来维持生命,骨髓或脐血移植是惟一的根治方法,但目前成功率不高,而且合适的配型也较难找到。因此,控制该病最有效的办法是通过产前筛查和对高风险夫妇采取产前基因诊断来防止重型患儿的出生。 Severe alpha thalassemia is a lethal genetic disease that is highly edematous, degenerative, and died of suffocation or shortly after birth. Children with beta-thalassemia major need monthly blood transfusions and iron-free treatments to survive. Bone marrow or umbilical cord blood transplantation is the only cure, but the current success rate is not high, and matching is more difficult to find. Therefore, the most effective way to control the disease is to prevent the birth of a heavy child by prenatal screening and prenatal genetic diagnosis of high-risk couples.