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

13 Citations (Scopus)

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

Fingerprint

Hemolytic Anemia
Heme
Hemoglobins
Mutation
Globins
Oligonucleotide Probes
Protein Stability
Valine
Structural analysis
Codon
Methionine
Substitution reactions
Genes
DNA
hemoglobin Evans
Proteins

ASJC Scopus subject areas

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

Cite this

Wilson, J. B., Webber, B. B., Kutlar, A., Reese, A. L., Mckie, V. C., Lutcher, C. L., ... 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

Hb evans or α262(e11)val→metβ2; an unstable hemoglobin causing a mild hemolytic anemia. / Wilson, J. B.; Webber, B. B.; Kutlar, A.; Reese, A. L.; Mckie, V. C.; Lutcher, C. L.; Felice, A. E.; Huisman, T. H.J.

In: Hemoglobin, Vol. 13, No. 6, 01.01.1989, p. 557-566.

Research output: Contribution to journalArticle

Wilson, JB, Webber, BB, Kutlar, A, Reese, AL, Mckie, VC, Lutcher, CL, Felice, AE & Huisman, THJ 1989, 'Hb evans or α262(e11)val→metβ2; an unstable hemoglobin causing a mild hemolytic anemia', Hemoglobin, vol. 13, no. 6, pp. 557-566. https://doi.org/10.3109/03630268908993106
Wilson, J. B. ; Webber, B. B. ; Kutlar, A. ; Reese, A. L. ; Mckie, V. C. ; Lutcher, C. L. ; Felice, A. E. ; Huisman, T. H.J. / Hb evans or α262(e11)val→metβ2; an unstable hemoglobin causing a mild hemolytic anemia. In: Hemoglobin. 1989 ; Vol. 13, No. 6. pp. 557-566.
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