title: Hb Evans or alpha 262(E11)Val----Met beta 2; an unstable hemoglobin causing a mild hemolytic anemia.
abstract: Structural analysis of the alpha chain of the hemoglobin from a Caucasian female with a mild hemolytic anemia showed the presence of a variant with a Val----Met substitution at position alpha 62. The valine at this position forms one of the contacts with heme and its replacement by methionine will likely decrease heme binding and cause a distortion of the heme crevice and a decreased stability of the abnormal protein. Dot-blot analysis of amplified DNA with 32P-labeled synthetic oligonucleotide probes confirmed the suspected G----A mutation in the first position of codon 62, and also located the mutation in the alpha 2-globin gene. The mutation was found in the proposita and one of her daughters but was most probably absent in her parents.
authors.affiliation: Department of Cell and Molecular Biology, Medical College of Georgia, Augusta 30912.
authors.forename: J B
authors.initials: JB
authors.lastname: Wilson
authors.forename: B B
authors.initials: BB
authors.lastname: Webber
authors.forename: A
authors.initials: A
authors.lastname: Kutlar
authors.forename: A L
authors.initials: AL
authors.lastname: Reese
authors.forename: V C
authors.initials: VC
authors.lastname: McKie
authors.forename: C L
authors.initials: CL
authors.lastname: Lutcher
authors.forename: A E
authors.initials: AE
authors.lastname: Felice
authors.forename: T H
authors.initials: TH
authors.lastname: Huisman
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D000743:Anemia, Hemolytic / Q000209:etiology* / Q000235:genetics; D001483:Base Sequence; D001665:Binding Sites; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D005796:Genes; D005914:Globins / Q000235:genetics / Q000378:metabolism; D006418:Heme / Q000378:metabolism; D006453:Hemoglobinopathies / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D011487:Protein Conformation
chemical_list: D006455:Hemoglobins, Abnormal; C062318:hemoglobin Evans; D006418:Heme; D005914:Globins