Hemoglobin Riyadh--alpha2beta2 (120(GH3)Lys replaced by Asn). A new variant found in association with alpha-thalassemia and iron deficiency.
On a field trip toSaudi Arabia (M.A.F.E.H.) in which the relationship between alpha-thalassemia and iron deficiency was studied, a fast moving hemoglobin variant was noted in a 30 year old Saudi Arabian woman. Analysis of the hemoglobin variant showed that the amino acid substitution was beta120 Lys replaced by Asn. This variant had not been described previously and has been named Hb Riyadh. There was also present an alpha-thalassemia and details are given of the imbalance of globin chain synthesis. It was possible to improve considerably the balance in vitro by the addition of hemin.
D000328:Adult; D000747:Anemia, Hypochromic / Q000097:blood* / Q000150:complications; D001216:Asparagine / Q000097:blood; D004587:Electrophoresis, Agar Gel; D005260:Female; D014644:Genetic Variation; D006455:Hemoglobins, Abnormal / Q000096:biosynthesis / Q000302:isolation & purification*; D006801:Humans; D008239:Lysine / Q000097:blood; D010455:Peptides / Q000097:blood; D012529:Saudi Arabia; D013789:Thalassemia / Q000097:blood* / Q000150:complications
D006455:Hemoglobins, Abnormal; D010455:Peptides; D001216:Asparagine; D008239:Lysine