Hb Doha or alpha 2 beta 2[X-N-Met-1(NA1)Val----Glu]; a new beta-chain abnormal hemoglobin observed in a Qatari female.
Structural analysis of a fast-moving hemoglobin variant, present in three members of a Qatari family, identified a Val----Glu substitution at position 1 (NA1) of the beta-chain. The introduction of this glutamic acid residue prevents the removal of the initiator methionine, thus extending the N-terminus by one residue to Met-Glu-His-Leu-Thr-. The methionine residue is blocked by an as yet not completely identified molecule. The presence of the variant in a heterozygote does not have clinical consequences.
D000328:Adult; D000596:Amino Acids / Q000032:analysis; D055598:Chemical Phenomena; D002621:Chemistry; D002848:Chromatography, DEAE-Cellulose; D002852:Chromatography, Ion Exchange; D004587:Electrophoresis, Agar Gel; D005260:Female; D006455:Hemoglobins, Abnormal / Q000032:analysis*; D006801:Humans; D008297:Male; D013058:Mass Spectrometry / Q000379:methods; D008875:Middle Aged; D010446:Peptide Fragments / Q000032:analysis; D011780:Qatar
D000596:Amino Acids; D006455:Hemoglobins, Abnormal; D010446:Peptide Fragments; C046660:hemoglobin Doha