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. 1988 Oct;70(2):233-8.
doi: 10.1111/j.1365-2141.1988.tb02469.x.

Characterization of two deletions that remove the entire human zeta-alpha globin gene complex (- -THAI and - -FIL)

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Characterization of two deletions that remove the entire human zeta-alpha globin gene complex (- -THAI and - -FIL)

N Fischel-Ghodsian et al. Br J Haematol. 1988 Oct.

Abstract

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.

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