Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/197278
Type: Artigo de periódico
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)].
Author: Jorge, Susan E Costa
Kimura, Elza M
Oliveira, Denise M
Ogo, Satie
Albuquerque, Dulcinéia M
Costa, Fernando F
Sonati, Maria de Fátima
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.
Subject: Adult
Amino Acid Substitution
Base Sequence
Brazil
Dna
Female
Genetic Variation
Globins
Hemoglobins, Abnormal
Humans
Male
Middle Aged
Polymorphism, Single Nucleotide
Rights: fechado
Identifier DOI: 10.1080/03630260701289425
Address: http://www.ncbi.nlm.nih.gov/pubmed/17486496
Date Issue: 2007
Appears in Collections:Unicamp - Artigos e Outros Documentos

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