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We have compared the phenotypes of the two common deletion forms of alpha+-thalassemia by analysis of umbilical cord blood samples from Melanesia. Homozygotes for the leftward, 4.2-kilobase, deletion (-alpha 4.2) had significantly higher levels of Hb Bart's at birth than homozygotes for the rightward, 3.7-kilobase, deletion (-alpha 3.7). Compound heterozygotes for each deletion had intermediate values. Although deletion forms of alpha 0 thalassemia were not found in this survey, nondeletion alpha-thalassemia was present at low frequency. Since the predominant rightward deletion in this population, -alpha 3.7III, entirely removes the alpha 1-gene and the 4.2-kilobase deletion deletes the alpha 2-gene, these data indicate that the alpha 2-globin gene has a higher output than the alpha 1-gene, on single alpha-gene chromosomes.

Original publication

DOI

10.1172/JCI112804

Type

Journal article

Journal

J Clin Invest

Publication Date

01/1987

Volume

79

Pages

39 - 43

Keywords

Chromosome Deletion, Gene Expression Regulation, Globins, Hemoglobins, Abnormal, Heterozygote, Homozygote, Humans, Melanesia, Phenotype, Thalassemia