Article
Identification of a novel beta O-thalassaemia mutation in a Greek family and subsequent prenatal diagnosis.
Prenatal diagnosis - 1 Oct 1994
Waye J S, Eng B, Olivieri N F, Chui D H
Abstract excerpt
We present a case in which a Greek couple was considered not to be at risk of having children with homozygous beta-thalassaemia, an assessment based largely on the father's belief that he carried alpha-thalassaemia. After their first child was diagnosed with homozygous beta-thalassaemia, the case was re-assessed and both parents were shown to have the haematological profile of beta-thalassaemia trait. Screening...
Topics
- Base Sequence
- DNA
- DNA Primers
- Female
- Fetal Diseases
- Genetic Carrier Screening
- Genetic Testing
- Globins
- Homozygote
- Humans
- Infant
- Male