Hb Alesha or alpha 2 beta (2)67(E11)Val-->Met: a new unstable hemoglobin variant identified through sequencing of amplified DNA.
Article Details
- CitationCopy to clipboard
Molchanova TP, Postnikov YuV, Pobedimskaya DD, Smetanina NS, Moschan AA, Kazanetz EG, Tokarev YuN, Huisman TH
Hb Alesha or alpha 2 beta (2)67(E11)Val-->Met: a new unstable hemoglobin variant identified through sequencing of amplified DNA.
Hemoglobin. 1993 Jun;17(3):217-25.
- PubMed ID
- 8330974 [ View in PubMed]
- Abstract
We have identified a valine-->methionine mutation at position 67 of the beta chain in the hemoglobin of a young Russian patient with severe hemolytic disease, anemia, splenomegaly, Heinz body formation, and continued requirement for blood transfusions despite an early splenectomy. Sequencing of amplified DNA readily identified a GTG-->ATG mutation at codon 67. The introduction of the larger methionine residue into the heme pocket, and the loss of the bonds between valine at beta 67 and the heme group, adequately account for the severe instability of Hb Alesha and the serious clinical condition of its carrier.