Hemoglobin Freiburg: abnormal hemoglobin due to deletion of a single amino acid residue.
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.
D000328:Adult; D000595:Amino Acid Sequence; D001797:Blood Protein Electrophoresis; D002845:Chromatography; D005260:Female; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male
D006455:Hemoglobins, Abnormal