Levels of Hb A2 in heterozygotes and homozygotes for beta-thalassemia mutations: influence of mutations in the CACCC and ATAAA motifs of the beta-globin gene promoter.

doi:10.1159/000203622

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Article

Levels of Hb A2 in heterozygotes and homozygotes for beta-thalassemia mutations: influence of mutations in the CACCC and ATAAA motifs of the beta-globin gene promoter.

Acta haematologica - 1 Jan 1997

Huisman T H

Abstract excerpt

The author summarizes the Hb A2 levels in over 600 beta-thalassemia heterozygotes with 32 different base changes or frameshifts and in 22 heterozygotes for 1 of 5 large deletions. Three major groups are recognized: persons with beta zero-thalassemia or beta (+)-thalassemia (severe) have Hb A2 lev...

Topics

Adult
Child
Female
Genetic Carrier Screening
Hemoglobin A2
Homozygote
Humans
Male
Middle Aged
Mutation
Pedigree
Promoter Regions, Genetic
beta-Thalassemia

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