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Title: Hb Evans or α262 (E11) Val→ Metβ2 ; an unstable hemoglobin causing a mild hemolytic anemia
Authors: Wilson, Jerry B.
Webber, Brooke B.
Kutlar, Abdullah
Reese, A. L.
McKie, Virgil C.
Lutcher, Charles Lawrence
Felice, Alex E.
Huisman, Titus Hendrik Jan
Keywords: Hemoglobinopathy
Hemolytic anemia
Hemoglobin -- Case studies
Hemoglobins, Abnormal
Issue Date: 1989
Publisher: Taylor & Francis
Citation: 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.
Abstract: Structural analysis of 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 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 α2-globin gene. The mutation was found in the proposita and one of her daughters but was most probably absent in her parents.
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