[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].
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.
Laboratoire d'Hémobiologie, CHU Kouba, Alger, Algérie.
M
M
Dahmane-Arbane
Y
Y
Blouquit
N
N
Arous
J
J
Bardakdjian
M
M
Benamani
J
J
Riou
M
M
Benabadji
J
J
Rosa
F
F
Galacteros
D000293:Adolescent; D000328:Adult; D000462:Algeria; D000755:Anemia, Sickle Cell / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002851:Chromatography, High Pressure Liquid; D005260:Female; D006450:Hemoglobin SC Disease / Q000097:blood / Q000208:ethnology / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000032:analysis*; D006720:Homozygote; D006801:Humans; D007525:Isoelectric Focusing; D008297:Male; D009154:Mutation; D010375:Pedigree
D006455:Hemoglobins, Abnormal
Hémoglobine Boumerdès alpha 2(37) (C2) Pro----Arg beta 2: un nouveau variant de la chaîne alpha associé à l'hémoglobine S dans une famille algérienne.