Hemoglobin I-Philadelphia [alpha 16 (A14) LYS-->GLU] heterozygote among blood donors from Brazil
Genet. mol. res. (Online)
;
5(4): 713-716, 2006.
Artículo
en Inglés
| LILACS
| ID: lil-482085
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.
Texto completo:
Disponible
Índice:
LILACS (Américas)
Asunto principal:
Hemoglobinas Anormales
/
Heterocigoto
/
Mutación
Límite:
Adulto
/
Humanos
/
Masculino
País/Región como asunto:
America del Sur
/
Brasil
Idioma:
Inglés
Revista:
Genet. mol. res. (Online)
Asunto de la revista:
Biologia Molecular
/
Genética
Año:
2006
Tipo del documento:
Artículo
País de afiliación:
Brasil
Institución/País de afiliación:
Acre/BR
/
Faculdade de Medicina de cSão José do Rio Preto/BR
/
UNESP/BR
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