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The molecular basis of alpha-thalassaemia has been established in 48 Thai subjects with Hb H disease and 15 with the Hb Bart's hydrops fetalis syndrome. This study has shown that in this population there are at least 18 different types of chromosome carrying seven independent alpha-thalassaemia mutations one of which is a novel deletion removing the entire alpha-globin gene complex. Although there are a limited number of alpha-thalassaemia determinants in the Thai population, there is a remarkable degree of variation in the genetic markers which flank them. These markers may be of value in establishing the evolutionary history of the alpha-thalassaemias.

Type

Journal article

Journal

Embo J

Publication Date

1984

Volume

3

Pages

1813 - 1818

Keywords

Chromosome Deletion Erythroblastosis, Fetal/genetics Female Globins/*genetics Hemoglobin H/*genetics Hemoglobins, Abnormal/*genetics Hemoglobinuria/genetics Human Infant, Newborn Linkage (Genetics) Polymorphism (Genetics) Pregnancy Recombination, Genetic Support, Non-U.S. Gov't Thailand Thalassemia/*genetics