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Hemoglobin barts hydrops fetalis syndrome.

作者信息

Bowman E, Watts J, Burrows R, Chui D H

机构信息

Department of Pediatrics, McMaster University School of Medicine, Hamilton, Ontario, Canada.

出版信息

Haematologia (Budap). 1987;20(3):125-30.

PMID:3692334
Abstract

A 25 year old Vietnamese-Canadian pregnant woman was referred to our regional perinatal center at 31 weeks gestation after a routine ultrasound examination showing fetal ascites. A diagnosis of non-immune hydrops fetalis was made, and a Caesarean section was performed two days after hospital admission. An infant with Hb Barts hydrops fetalis was delivered who expired one hour after birth. alpha-Globin gene mapping of fetal DNA confirmed the diagnosis of homozygous alpha-thalassemia with deletion of all four alpha-globin genes. Both parents were shown to have alpha-thalassemia trait with deletion of both alpha-globin genes on one chromosome. This report further illustrates the need for a simple screening test for couples at risk of giving birth to infants with homozygous alpha-thalassemia. The availability of such a test would facilitate genetic counselling and prenatal diagnosis, thereby improving the quality of obstetrical care provided to these women at risk.

摘要

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