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We have fully characterized two alpha thalassaemia mutants that occur in Southeast Asia, - -THAI and - -FIL. Each mutant is due to a deletion that removes the entire zeta-alpha-globin gene complex. Localization of the 5' breakpoints described here, allows the identification of unique fragments that are specific for each of the two mutations. This information can be used to assess the frequency of these mutants in Southeast Asia and will be of value in prenatal testing for alpha thalassaemia in this area.

Original publication

DOI

10.1111/j.1365-2141.1988.tb02469.x

Type

Journal article

Journal

British journal of haematology

Publication Date

10/1988

Volume

70

Pages

233 - 238

Addresses

Nuffield Department of Clinical Medicine, John Radcliffe Hospital, Oxford.

Keywords

Humans, Thalassemia, Chromosome Deletion, Globins, Chromosome Mapping, Mutation, Child, Preschool