Artigo
Hemoglobin I-Philadelphia [alpha 16 (A14) LYS→GLU] heterozygote among blood donors from Brazil
Registro en:
Genetics and Molecular Research, v. 5, n. 4, p. 713-716, 2006.
1676-5680
WOS:000203012000013
2-s2.0-33845424973
WOS000203012000013.pdf
9424175688206545
3279428066176719
0000-0002-4603-9467
Autor
Torres, F. R. [UNESP]
Ondei, L. S. [UNESP]
Zamaro, P. J. A. [UNESP]
Silva, R. U.
Cavasini, C. E.
Rossit, A. R. B.
Machado, R. L. D.
Bonini-Domingos, C. R. [UNESP]
Resumen
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. Departamento de Biologia Laboratório de Hemoglobinas e Genética Das Doenças Hematológicas UNESP, S. José do Rio Preto, SP Banco de Sangue do Estado do Acre, Rio Branco, AC Departamento de Doenças Infecciosas, Dermatológicas e Parasitárias Centro de Investigação de Microrganismos Faculdade de Medicina, S. José do Rio Preto, SP Departamento de Biologia Laboratório de Hemoglobinas e Genética Das Doenças Hematológicas UNESP, S. José do Rio Preto, SP