title: Hemoglobin J Cairo: beta 65 (E9) Lys leads to Gln, A new hemoglobin variant discovered in an Egyptian family.
abstract: The present report describes clinical, hematological and biochemical studies of a 27-year old Egyptian woman in whom a fast moving Hb variant was found. The abnormal Hb constituted 48% of the total erythrocyte Hb of the propositus and her father. Structural studies demonstrated that in the abnormal Hb lysine beta 65 is replaced by glutamine. The new Hb mutant is designated hemoglobin J Cairo beta 65 (E9) Lys leads to Gln. This substitution results in only a moderate decrease in cooperativity. No evidence of Hb instability was found. A slight anemic state has been observed in the propositus since she reached adolescence.
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D000596:Amino Acids / Q000032:analysis; D000740:Anemia / Q000097:blood; D004534:Egypt; D005260:Female; D005973:Glutamine; D006455:Hemoglobins, Abnormal; D006801:Humans; D008239:Lysine; D046911:Macromolecular Substances; D008297:Male; D010108:Oxyhemoglobins; D010375:Pedigree; D010446:Peptide Fragments / Q000032:analysis; D011485:Protein Binding
chemical_list: D000596:Amino Acids; D006455:Hemoglobins, Abnormal; D046911:Macromolecular Substances; D010108:Oxyhemoglobins; D010446:Peptide Fragments; D005973:Glutamine; D008239:Lysine