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The Risk of α-Thalassaemia in Offspring of β-Thalassaemia Carriers in Hong Kong

✍ Scribed by Yung Hang Lam; Arabinda Ghosh; Mary Hoi Yin Tang; Vivian Chan

Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
33 KB
Volume
17
Category
Article
ISSN
0197-3851

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✦ Synopsis

Couples in whom one is heterozygous for -thalassaemia-1 and the other is heterozygous for -thalassaemia are assumed not to be at risk of having offspring with homozygous -thalassaemia-1 or homozygous -thalassaemia. We retrospectively reviewed the genetic outcome of 189 pregnancies of 178 couples in whom the partners were diagnosed to be discordant heterozygotes of -thalassaemia and -thalassaemia on haematological tests. gene mapping was performed on 158 -thalassaemia carriers to diagnose the presence of co-existing -thalassaemia-1. Eleven patients (7 per cent) were found to be compound -and -thalassaemia heterozygotes. They accounted for 16 pregnancies, of which five were diagnosed to be affected by homozygous -thalassaemia-1. Our results show that couples presumed to be discordant heterozygotes of -and -thalassaemia on haematological testing are at risk of having offspring with homozygous -thalassaemia-1 if the gene mapping of the heterozygous -thalassaemia partner shows co-inheritance of -thalassaemia-1. Prenatal diagnosis of homozygous -thalassaemia-1 should be performed on these at-risk pregnancies.

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