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[Hemoglobin Boumerdès alpha 2(37) (C2) Pro----Arg beta 2: a new variant of the alpha chain associated with hemoglobin S in an Algerian family].

作者信息

Dahmane-Arbane M, Blouquit Y, Arous N, Bardakdjian J, Benamani M, Riou J, Benabadji M, Rosa J, Galacteros F

机构信息

Laboratoire d'Hémobiologie, CHU Kouba, Alger, Algérie.

出版信息

Nouv Rev Fr Hematol (1978). 1987;29(5):317-20.

PMID:3438164
Abstract

We report the first case of Hb Boumerdes, an alpha chain variant alpha 2(37) (C2) Pro----Arg beta 2, in an Algerian family. The propositus was also homozygous for the sickle cell gene. The abnormal hybrid Hb alpha 2Boum. beta 2S had an electrophoretic mobility on cellulose acetate pH 8.7 electrophoresis between those of Hb S and Hb A2. Its expression was about 16%. The alpha 2Boum. beta 2A fraction has a mobility between those of Hb F and Hb S. The effects of this mutation on Hb oxygen affinity and deoxy Hb S polymer formation were not studied. The propositus' sickle cell phenotype was benign.

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