Hb Puttelange [beta 140(H19)Ala-->Val] in an Italian man with polycythemia.
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).
Galanello
R
R
Istituto di Clinica e Biologia dell'Età Evolutiva, Ospedale Regionale delle Microcitemie, Sardinia, Italia.
Paleari
R
R
Perseu
L
L
Barella
S
S
Maccioni
L
L
Cao
A
A
Mulas
G
G
Cocco
E
E
Mosca
A
A
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*
D006455:Hemoglobins, Abnormal; C097152:hemoglobin Puttelange; D010100:Oxygen