Identification of an extensive ζ‐α globin gene deletion in a Chinese individual

Summary.We describe a novel α‐thalassaemia‐1 deletion that removes the entire ζ‐α 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 α‐thalassaemia‐1 deletion (ζζα/ζζ—SEA), while the father carries an α‐thalassaemia‐1 deletion of more than 100 kilobases (ζζα/—). This newly discovered deletion extends for unknown distances 3’ and 5’ of the ζ‐α globin gene cluster and has been designated (—HW).

Identification of an extensive ζ‐α globin gene deletion in a Chinese individual Journal Articles