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A report of a doubly heterozygous case for both haemoglobins: Hb Stanleyville II (alpha 78 replaced by Lys) and Hb S (beta 6 Glu replaced by Val) with Hb hybrid S/St II. A 29-year-old woman from Zaïre was found to have four haemoglobins: Hb A, Hb Stanleyville II, Hb S and Hb hybrid S/St II. The clinical and hematological effects of this combination were similar to those of heterozygous sickle cell anaemia. Substitution of Lysin for Asparagin at residue alpha 78 reduced the tendency to polymerization and increased mechanical stability. These findings demonstrated involvement of this site in intermolecular interactions and explained the moderate severity of the sickle cell anaemia syndrome.
M L North, and
W Hassan, and
J Thillet, and
M Schwartz, and
C Taubert, and
J Ritter, and
R Gandar, and
J Rosa
July 1980,
Biochimica et biophysica acta,
M L North, and
W Hassan, and
J Thillet, and
M Schwartz, and
C Taubert, and
J Ritter, and
R Gandar, and
J Rosa
January 1991,
Human genetics,
M L North, and
W Hassan, and
J Thillet, and
M Schwartz, and
C Taubert, and
J Ritter, and
R Gandar, and
J Rosa
February 1983,
Biochemical and biophysical research communications,
M L North, and
W Hassan, and
J Thillet, and
M Schwartz, and
C Taubert, and
J Ritter, and
R Gandar, and
J Rosa
August 1976,
American journal of clinical pathology,
M L North, and
W Hassan, and
J Thillet, and
M Schwartz, and
C Taubert, and
J Ritter, and
R Gandar, and
J Rosa
January 1982,
Revista do Instituto de Medicina Tropical de Sao Paulo,
M L North, and
W Hassan, and
J Thillet, and
M Schwartz, and
C Taubert, and
J Ritter, and
R Gandar, and
J Rosa
February 2011,
Blood cells, molecules & diseases,
M L North, and
W Hassan, and
J Thillet, and
M Schwartz, and
C Taubert, and
J Ritter, and
R Gandar, and
J Rosa
January 1973,
Biochimie,
M L North, and
W Hassan, and
J Thillet, and
M Schwartz, and
C Taubert, and
J Ritter, and
R Gandar, and
J Rosa
December 1980,
Journal of molecular biology,
M L North, and
W Hassan, and
J Thillet, and
M Schwartz, and
C Taubert, and
J Ritter, and
R Gandar, and
J Rosa
January 1977,
Hemoglobin,
M L North, and
W Hassan, and
J Thillet, and
M Schwartz, and
C Taubert, and
J Ritter, and
R Gandar, and
J Rosa
December 1981,
Problemy gematologii i perelivaniia krovi,
