Abstract:
:Hb Puttelange [beta 140(H18)Ala-->Val] 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 beta-globin exons and nucleotide sequencing revealed a heterozygosity for a GCC-->GTC mutation in codon 140 corresponding to an Ala-->Val 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 beta 82(EF6).
journal_name
Hemoglobinjournal_title
Hemoglobinauthors
Galanello R,Paleari R,Perseu L,Barella S,Maccioni L,Cao A,Mulas G,Cocco E,Mosca Adoi
10.3109/03630269708997507subject
Has Abstractpub_date
1997-01-01 00:00:00pages
17-26issue
1eissn
0363-0269issn
1532-432Xjournal_volume
21pub_type
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