title: Hb G-Philadelphia, or [alpha 68(E17)Asn----Lys], in north Sardinia: detection by isoelectric focusing and identification by HPLC of tryptic peptides.
abstract: 11,129 individuals of the northern area of the island of Sardinia (7,717 newborns and 3,412 adults) were examined for the Hb G-Philadelphia variant [alpha 68(E17)Asn----Lys]. Hemolysates were analysed by isoelectric focusing, and the variant identified by reversed phase high performance liquid chromatography of tryptic peptides. A total of seven heterozygotes (1 in 1,589) were identified. This is probably the highest prevalence of this mutant so far described. Percentages of the variant (average 35.1 +/- 6.2%) were trimodally distributed with modes centering on 28, 36, and 42%, respectively. These values suggest that the G-Philadelphia allele occurs in Sardinians both on a single and on a double locus chromosome. The linkage with alpha-thalassemia may be the reason for the high frequency of the variant.
authors.affiliation: Institute of General Physiology and Biological Chemistry, University of Sassari, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Manca
authors.forename: P
authors.initials: P
authors.lastname: Demuro
authors.forename: B
authors.initials: B
authors.lastname: Masala
mesh_terms: D000328:Adult; D002851:Chromatography, High Pressure Liquid; D006455:Hemoglobins, Abnormal / Q000235:genetics / Q000302:isolation & purification*; D006801:Humans; D007231:Infant, Newborn; D007525:Isoelectric Focusing; D007558:Italy; D010446:Peptide Fragments / Q000032:analysis*
chemical_list: D006455:Hemoglobins, Abnormal; D010446:Peptide Fragments; C031679:hemoglobin G Philadelphia