Sharma R S, Yu V, Walters W A
Department of Haematology, Queen Victoria Medical Centre, Melbourne.
Med J Aust. 1979 Oct 20;2(8):404, 433-4. doi: 10.5694/j.1326-5377.1979.tb104208.x.
An unusual case of Bart's hydrops fetalis is reported where the patient was born to parents of Greek origin. An exchange transfusion was given. Adult haemoglobin (HbA) was present in addition to HbBart's and HbPortland. A low level of synthesis of alpha-chains was evident. The mother presented again in a subsequent pregnancy for prenatal diagnosis of thalassaemia. The fetus was diagnosed as an alpha-thalassaemia carrier, a diagnosis which was confirmed at birth. The nature of alpha-thalassaemia in the family is discussed.
报告了一例罕见的巴氏水肿胎儿病例,该患者的父母为希腊裔。进行了换血治疗。除了HbBart's和HbPortland外,还存在成人血红蛋白(HbA)。α链的合成水平较低是明显的。母亲在随后的妊娠中再次就诊以进行地中海贫血的产前诊断。胎儿被诊断为α地中海贫血携带者,该诊断在出生时得到证实。讨论了该家族中α地中海贫血的性质。