Silent Hemoglobin Alpha Genes in Apes: Potential Source of Thalassemia

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Science  15 Jan 1971:
Vol. 171, Issue 3967, pp. 182-185
DOI: 10.1126/science.171.3967.182


Small quantities of unusual hemoglobins were found in 1 of 37 chimpanzees and 2 of 6 gorillas. In each genus these hemoglobins contain unique α chains that differ from the ordinary by eight to nine scattered amino acid changes. The unusual chains arise from a hitherto undetected hemoglobin 3α locus. No 3α products are found in most apes; accordingly, 3α is considered synthetically inactive in all but a few reversion mutants. Indirect evidence that the inactive 3α locus is juxtaposed to an active α locus together with the supposition that 3α exists in man provides a setting wherein thalassemia might be produced by nonhomologous recombination between two loci.