title: Three new alpha-globin variants: Hb Itapira [alpha30(B11)Glu-->Val (alpha1)], Hb Bom Jesus Da Lapa [alpha30(B11)Glu-->Ala (alpha1)] and Hb Boa Esperança [alpha16(A14)Lys-->Thr (alpha2)].
abstract: Three novel alpha-globin variants were found during a screening program for hemoglobinopathies in blood donors at the UNICAMP Hematology and Hemotherapy Center, Campinas, State of São Paulo, Southeastern Brazil. They were named for the town of origin of the carrier as Hb Itapira [alpha30(B11)Glu-->Val], Hb Bom Jesus da Lapa [alpha30(B11)Glu-->Ala] and Hb Boa Esperança [alpha16(A14)Lys-->Thr]. Hb Itapira, like Hb Bom Jesus da Lapa, shows an electrophoretic mobility similar to that of Hb S [beta6(A3)GluVal, GAG-->GTG] at alkaline pH; it is associated with a triplicate alpha-globin allele (alphaalphaalpha(anti 3.7)) and corresponds to only 5.5% of the total hemoglobin (Hb). Hb Boa Esperança, found in two different individuals, moves faster than Hb A and exhibits an abnormal functional performance.
authors.affiliation: Laboratory of Hemoglobinopathies, Department of Clinical Pathology, School of Medical Sciences, State University of Campinas-UNICAMP, Campinas, State of São Paulo, Brazil.
authors.forename: Susan E Costa
authors.initials: SE
authors.lastname: Jorge
authors.forename: Elza M
authors.initials: EM
authors.lastname: Kimura
authors.forename: Denise M
authors.initials: DM
authors.lastname: Oliveira
authors.forename: Satie
authors.initials: S
authors.lastname: Ogo
authors.forename: Dulcinéia M
authors.initials: DM
authors.lastname: Albuquerque
authors.forename: Fernando F
authors.initials: FF
authors.lastname: Costa
authors.forename: Maria de Fátima
authors.initials: Mde F
authors.lastname: Sonati
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D001483:Base Sequence; D001938:Brazil; D004247:DNA / Q000097:blood / Q000235:genetics / Q000302:isolation & purification; D005260:Female; D014644:Genetic Variation; D005914:Globins / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide
chemical_list: D006455:Hemoglobins, Abnormal; D005914:Globins; D004247:DNA