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一名希腊裔婴儿的血红蛋白Bart胎儿水肿综合征及α地中海贫血的产前诊断

Haemoglobin Bart's hydrops fetalis syndrome in an infant of Greek origin and prenatal diagnosis of alpha-thalassaemia.

作者信息

Sharma R S, Yu V, Walters W A

机构信息

Department of Haematology, Queen Victoria Medical Centre, Melbourne.

出版信息

Med J Aust. 1979 Oct 20;2(8):404, 433-4. doi: 10.5694/j.1326-5377.1979.tb104208.x.

Abstract

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.

摘要

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。

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