title: Hemoglobin I-Philadelphia [alpha 16 (A14) LYS-->GLU] heterozygote among blood donors from Brazil.
abstract: We describe a heterozygous case of Hb I-Philadelphia [alpha 16 (A14) LYS-->GLU] in a blood donor from the Acre State Blood Bank, in the Brazilian Amazon region. We confirmed the mutation by electrophoretic and chromatographic methods and by DNA sequencing. A literature search showed that this is the first description of this alpha globin mutant in a Brazilian Caucasian group. We also emphasize the importance of the hemoglobin study in blood donors for the purpose of the genetic counseling and quality assurance of the blood to be transfused. Screening tests for hemoglobin mutants are also important for gathering anthropological information about the Brazilian population.
authors.affiliation: Departamento de Biologia, Laboratório de Hemoglobinas e Genética das Doenças Hematológicas, Instituto de Biociências, UNESP, São José do Rio Preto, SP, Brasil.
authors.forename: F R
authors.initials: FR
authors.lastname: Torres
authors.forename: L S
authors.initials: LS
authors.lastname: Ondei
authors.forename: P J A
authors.initials: PJ
authors.lastname: Zamaro
authors.forename: R U
authors.initials: RU
authors.lastname: Silva
authors.forename: C E
authors.initials: CE
authors.lastname: Cavasini
authors.forename: A R B
authors.initials: AR
authors.lastname: Rossit
authors.forename: R L D
authors.initials: RL
authors.lastname: Machado
authors.forename: C R
authors.initials: CR
authors.lastname: Bonini-Domingos
mesh_terms: D000328:Adult; D001782:Blood Donors; D001938:Brazil; D002851:Chromatography, High Pressure Liquid; D004586:Electrophoresis; D006455:Hemoglobins, Abnormal / Q000032:analysis / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D006455:Hemoglobins, Abnormal; C058732:hemoglobin I Philadelphia