Hemoglobin Freiburg: Abnormal Hemoglobin Due to Deletion of a Single Amino Acid Residue

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Science  25 Nov 1966:
Vol. 154, Issue 3752, pp. 1024-1027
DOI: 10.1126/science.154.3752.1024


Structural characterization of a new variant of human hemoglobin (adult), designated hemoglobin Freiburg, indicates the deletion of the valyl residue No. 23 from an otherwise normal beta-chain. The formula may be written α2β223val—0. The abnormal hemoglobin is present with hemoglobin A in the proposita and in two of her three living children, but is not detectable in her parents. We postulate that this variant represents a triplet base deletion which most likely resulted from an unequal crossing-over between two normal betachain loci during meiosis in one of the parents of the proposita.