Hemoglobin barts hydrops fetalis syndrome.
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.
Department of Pediatrics, McMaster University School of Medicine, Hamilton, Ontario, Canada.
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E
Bowman
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J
Watts
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R
Burrows
D H
DH
Chui
D000328:Adult; D002872:Chromosome Deletion; D004487:Edema / Q000209:etiology*; D005260:Female; D005315:Fetal Diseases / Q000209:etiology*; D005914:Globins / Q000145:classification / Q000235:genetics; D006455:Hemoglobins, Abnormal; D006720:Homozygote; D006801:Humans; D011247:Pregnancy; D013789:Thalassemia / Q000097:blood / Q000150:complications* / Q000196:embryology / Q000235:genetics
D006455:Hemoglobins, Abnormal; D005914:Globins; C030448:hemoglobin Bart's