Identification of an extensive ζ‐α globin gene deletion in a Chinese individual
- 12 March 1992
- journal article
- Published by Wiley in British Journal of Haematology
- Vol. 80 (3) , 378-380
- https://doi.org/10.1111/j.1365-2141.1992.tb08148.x
Abstract
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).Keywords
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