Hb evans or α262(e11)val→metβ2; an unstable hemoglobin causing a mild hemolytic anemia

J. B. Wilson, B. B. Webber, A. Kutlar, A. L. Reese, V. C. Mckie, C. L. Lutcher, A. E. Felice, T. H.J. Huisman

Research output: Contribution to journalArticle

14 Scopus citations

Abstract

Structural analysis o f the α 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 α62. The valine at this position forms one o f the contacts with heme and its replacement by methionine will likely decrease heme binding and cause adistortion 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 α2-globin gene. The mutation was found in the proposita and one of her daughters but was most probably absent in her parents.

Original languageEnglish (US)
Pages (from-to)557-566
Number of pages10
JournalHemoglobin
Volume13
Issue number6
DOIs
StatePublished - Jan 1 1989

ASJC Scopus subject areas

  • Hematology
  • Clinical Biochemistry
  • Genetics(clinical)
  • Biochemistry, medical

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    Wilson, J. B., Webber, B. B., Kutlar, A., Reese, A. L., Mckie, V. C., Lutcher, C. L., Felice, A. E., & Huisman, T. H. J. (1989). Hb evans or α262(e11)val→metβ2; an unstable hemoglobin causing a mild hemolytic anemia. Hemoglobin, 13(6), 557-566. https://doi.org/10.3109/03630268908993106