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.
Bowman
E
E
Department of Pediatrics, McMaster University School of Medicine, Hamilton, Ontario, Canada.
Watts
J
J
Burrows
R
R
Chui
D H
DH
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