HB Alesha or α2 β267(E11)VAL →MET: A New Unstable Hemoglobin Variant Identified Through Sequencing of, Amplified DNA

We have identified a Valine→methionine mutation at position 67 of the β 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 β 67 and the heme group, adequately account for the severe instability of Hb Alesha and the serious clinical condition of its carrier.