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 language | English (US) |
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Pages (from-to) | 557-566 |
Number of pages | 10 |
Journal | Hemoglobin |
Volume | 13 |
Issue number | 6 |
DOIs | |
State | Published - 1989 |
ASJC Scopus subject areas
- Genetics(clinical)
- Biochemistry, medical
- Hematology
- Clinical Biochemistry