PMID: 5919752Nov 25, 1966

Hemoglobin Freiburg: abnormal hemoglobin due to deletion of a single amino acid residue

Science
R T JonesK Betke

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.

Citations

Oct 1, 1972·Klinische Wochenschrift·E Kleihauer, K Betke
Nov 28, 1968·The New England Journal of Medicine·B Childs, V M Der Kaloustian
Apr 3, 1969·The New England Journal of Medicine·R G SchneiderR T Jones
Aug 1, 1974·Proceedings of the National Academy of Sciences of the United States of America·T H HuismanM Hubbard
Mar 1, 1978·Proceedings of the National Academy of Sciences of the United States of America·G R HonigL N Vida
Feb 1, 1970·British Journal of Haematology·J M White, M C Brain
May 16, 1969·Annals of the New York Academy of Sciences·J Peisach
Jul 1, 1970·CRC Critical Reviews in Clinical Laboratory Sciences·T H Huisman, W A Schroeder
Jan 1, 1984·Hemoglobin·G Stamatoyannopoulos, P E Nute
Nov 29, 1974·Annals of the New York Academy of Sciences·L T Hunt, M O Dayhoff
Jul 31, 1968·Annals of the New York Academy of Sciences·A G Motulsky, G Stamatoyannopoulos
Nov 20, 1969·Annals of the New York Academy of Sciences·H Lehmann, R G Huntsman
Nov 1, 1966·The American Journal of Medicine·P Heller
Feb 29, 1972·Biochemistry·J P Chauvet, R Acher
Nov 18, 1967·Nature·J V DacieH Lehmann
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Dec 1, 1967·Klinische Wochenschrift·R W CarrellW Pribilla

Related Concepts

Blood Protein Electrophoresis
Chromatography
Abnormal Hemoglobins

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