Abstract
Hb Puttelange [β140(H18)Ala àVal] was found in a 51–year-old Italian man who had mild polycythemia The variant eluted from ion exchange high performance liquid chromatography at a position between Hb A and Hb A2. It comprised approximately 34% of the total hemoglobin, was weakly unstable and exhibited an increased oxygen affinity. Amplification of the β-globin exons and nucleotide sequencing revealed a heterozygosity for a GCC àGTC mutation in codon 140 corresponding to an AlaàVal replacement. This substitution accounts for the altered functional properties, probably by producing indirect perturbation of the 2,3-diphosphoglycerate pocket through the nearby lysine residue at β82(EF6).
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