title: Hb A2-Manzanares or alpha 2 delta 2 121 (GH4) Glu replaced by Val, an unstable delta chain variant observed in a Spanish family.
abstract: A slowly moving variant of Hb A2 was present in a 25-year-old Spanish woman and her mother, and was found to have a Glu replaced by Val substitution at position 121 of the delta chain. The variant was unstable and precipitated gradually during anion exchange chromatography. The effect of this substitution on the stability of the protein is apparently more severe for Hb A2 than for Hb A because Hb Beograd (beta 121 Glu replaced by Val) has normal physicochemical properties.
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D000747:Anemia, Hypochromic / Q000097:blood; D055598:Chemical Phenomena; D002621:Chemistry; D004355:Drug Stability; D005260:Female; D014644:Genetic Variation; D006455:Hemoglobins, Abnormal / Q000302:isolation & purification*; D006801:Humans; D010446:Peptide Fragments; D011247:Pregnancy; D013030:Spain
chemical_list: D006455:Hemoglobins, Abnormal; D010446:Peptide Fragments; C039480:hemoglobin A2 Manzanares