title: Hb Vila Real [beta36(C2)Pro-->His] in Italy: characterization of the amino acid substitution and the DNA mutation.
abstract: A rare high oxygen affinity hemoglobin variant was identified in a 22-year-old male patient from Napoli (Naples, Italy) affected by erythrocytosis. A detailed structural characterization of the variant hemoglobin was carried out, both at the protein and DNA levels essentially by mass spectrometric procedures and allele-specific amplification techniques. The amino acid substitution was determined by liquid chromatography tandem mass spectrometric analysis of the tryptic digest as beta36(C2)Pro-->His; the corresponding DNA mutation was identified as C-->A at the second position of codon 36 of the beta chain (CCT-->CAT). These variations identified the presence of Hb Vila Real, described only once before in a Portuguese woman. Haplotype analysis of DNA polymorphisms showed that the beta-globin gene of Hb Vila Real was associated with haplotype I.
authors.affiliation: Dipartimento di Chimica Organica e Biochimica, Università di Napoli Federico II, Napoli, Italia.
authors.forename: Anna Maria
authors.initials: AM
authors.lastname: Salzano
authors.forename: Virginia
authors.initials: V
authors.lastname: Carbone
authors.forename: Leonilde
authors.initials: L
authors.lastname: Pagano
authors.forename: Salvatore
authors.initials: S
authors.lastname: Buffardi
authors.forename: Rosa Carlo
authors.initials: RC
authors.lastname: De
authors.forename: Piero
authors.initials: P
authors.lastname: Pucci
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D003062:Codon / Q000235:genetics; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D005914:Globins / Q000737:chemistry / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000737:chemistry / Q000235:genetics; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D017354:Point Mutation; D011086:Polycythemia / Q000097:blood / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
chemical_list: D003062:Codon; D006455:Hemoglobins, Abnormal; C406707:hemoglobin Vila Real; D005914:Globins; D004247:DNA