Hemoglobin Freiburg: abnormal hemoglobin due to deletion of a single amino acid residue.
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Jones RT, Brimhall B, Huisman TH, Kleihauer E, Betke K
Hemoglobin Freiburg: abnormal hemoglobin due to deletion of a single amino acid residue.
Science. 1966 Nov 25;154(3752):1024-7.
- PubMed ID
- 5919752 [ View in PubMed]
- Abstract
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 (alpha2)beta(2)(23val-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.