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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)].

Authors :
Jorge SE
Kimura EM
Oliveira DM
Ogo S
Albuquerque DM
Costa FF
Sonati Mde F
Source :
Hemoglobin [Hemoglobin] 2007; Vol. 31 (2), pp. 151-7.
Publication Year :
2007

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.

Details

Language :
English
ISSN :
0363-0269
Volume :
31
Issue :
2
Database :
MEDLINE
Journal :
Hemoglobin
Publication Type :
Academic Journal
Accession number :
17486496
Full Text :
https://doi.org/10.1080/03630260701289425