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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 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. |
URI: | https://www.um.edu.mt/library/oar//handle/123456789/28016 |
Appears in Collections: | Scholarly Works - FacM&SPB |
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