Carr S, Rubin L, Dixon D, Star J, Dailey J
Division of Maternal-Fetal Medicine, Brown University School of Medicine/Women and Infants Hospital, Providence, Rhode Island, USA.
Obstet Gynecol. 1995 May;85(5 Pt 2):876-9. doi: 10.1016/0029-7844(94)00334-a.
Alpha-thalassemia is one of the most common genetic disorders in the world and is becoming more common in the United States with the increase in immigration of susceptible populations. This disease has been stated previously to be incompatible with extrauterine life.
A Filipino woman with a prior loss due to hemoglobin Bart's underwent prenatal diagnosis that confirmed recurrence in the index pregnancy. Intravascular intrauterine exchange transfusions maintained appropriate fetal growth. A cesarean delivery yielded a 2190-g male infant with minor malformations. The postnatal course was characterized by mild respiratory insufficiency. Postnatal chronic transfusion therapy is underway pending consideration for bone marrow transplantation.
Antenatal diagnosis and therapy of homozygous alpha-thalassemia can prevent the prenatal consequences of hydrops and fetal death. New technologies such as stem cell transplantation may help to avert both prenatal and postnatal consequences.
α地中海贫血是世界上最常见的遗传性疾病之一，随着易感人群移民的增加，在美国也越来越普遍。此前曾指出，这种疾病与宫外生活不相容。
一名因巴氏血红蛋白病先前有过流产史的菲律宾女性接受了产前诊断，结果证实本次妊娠复发。血管内宫内换血输血维持了胎儿的正常生长。剖宫产分娩出一名体重2190克的男婴，有轻微畸形。产后病程的特点是轻度呼吸功能不全。正在进行产后慢性输血治疗，同时考虑进行骨髓移植。
纯合子α地中海贫血的产前诊断和治疗可以预防水肿和胎儿死亡的产前后果。干细胞移植等新技术可能有助于避免产前和产后的后果。
