title: Hb Puttelange [beta 140(H19)Ala-->Val] in an Italian man with polycythemia.
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).
authors.affiliation: Istituto di Clinica e Biologia dell'Età Evolutiva, Ospedale Regionale delle Microcitemie, Sardinia, Italia.
authors.forename: R
authors.initials: R
authors.lastname: Galanello
authors.forename: R
authors.initials: R
authors.lastname: Paleari
authors.forename: L
authors.initials: L
authors.lastname: Perseu
authors.forename: S
authors.initials: S
authors.lastname: Barella
authors.forename: L
authors.initials: L
authors.lastname: Maccioni
authors.forename: A
authors.initials: A
authors.lastname: Cao
authors.forename: G
authors.initials: G
authors.lastname: Mulas
authors.forename: E
authors.initials: E
authors.lastname: Cocco
authors.forename: A
authors.initials: A
authors.lastname: Mosca
mesh_terms: D002851:Chromatography, High Pressure Liquid; D005260:Female; D005838:Genotype; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D010100:Oxygen / Q000097:blood; D011086:Polycythemia / Q000235:genetics*; D013789:Thalassemia / Q000097:blood / Q000175:diagnosis*
chemical_list: D006455:Hemoglobins, Abnormal; C097152:hemoglobin Puttelange; D010100:Oxygen