Identification of an extensive zeta-alpha globin gene deletion in a Chinese individual.
We describe a novel alpha-thalassaemia-1 deletion that removes the entire zeta-alpha globin gene cluster. A Chinese couple were referred for counselling after two consecutive pregnancies ended with fetal hydrops. Gene mapping was used to demonstrate that the mother is heterozygous for the South-east Asia alpha-thalassaemia-1 deletion (zeta zeta zeta alpha alpha/zeta zeta--SEA), while the father carries an alpha-thalassaemia-1 deletion of more than 100 kilobases (zeta zeta alpha alpha/----). This newly discovered deletion extends for unknown distances 3' and 5' of the zeta-alpha globin gene cluster and has been designated (--HW).
Waye
J S
JS
DNA Diagnostic Laboratory, McMaster University Medical Centre, Hamilton, Ontario, Canada.
Eng
B
B
Chui
D H
DH
D002872:Chromosome Deletion; D002874:Chromosome Mapping; D005260:Female; D005914:Globins / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007135:Immunoglobulin Variable Region / Q000235:genetics; D008297:Male; D013789:Thalassemia / Q000235:genetics*
D007135:Immunoglobulin Variable Region; D005914:Globins