Hemoglobin Gun Hill: Deletion of Five Amino Acid Residues and Impaired Heme-Globin Binding

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Science  29 Sep 1967:
Vol. 157, Issue 3796, pp. 1581-1583
DOI: 10.1126/science.157.3796.1581


Hemoglobin Gun Hill, a new variant of adult hemoglobin, was found in a Caucasian and one of his three daughters. The abnormal hemoglobin had only half of the expected number of heme groups. Five amino acid residues appeared to be missing from the β-globin chains. These residues occur in linear sequence in normal β-chains in a region involved in heme-globin binding. A deletion of five amino acids in the β-chains of hemoglobin Gun Hill is postulated. The most likely mechanism for the origin of such a hemoglobin variant would appear to be unequal crossing-over during meiosis.