Funpec-RpAbout The JournalEditorial BoardCurrent IssueAll IssuesSearchIndexersInstructions For AuthorsContactSponsorsLinks

Case Report
Hemoglobin I-Philadelphia [alpha 16 (A14) LYS®GLU] heterozygote among blood donors from Brazil
F.R. Torres1, L.S. Ondei1, P.J.A. Zamaro1, R.U. Silva2, C.E. Cavasini3,
A.R.B. Rossit3, R.L.D. Machado3 and C.R. Bonini-Domingos1
1Departamento de Biologia,
Laboratório de Hemoglobinas e Genética das Doenças Hematológicas,
Instituto de Biociências, UNESP, São José do Rio Preto, SP, Brasil
2Banco de Sangue do Estado do Acre, Rio Branco, AC, Brasil
3Departamento de Doenças Infecciosas, Dermatológicas e Parasitárias,
Centro de Investigação de Microrganismos,
Faculdade de Medicina de São José do Rio Preto, SP, Brasil
Corresponding author: C.R. Bonini-Domingos
E-mail: claudiabonini@yahoo.com.br
Genet. Mol. Res. 5 (4): 713-716 (2006)
Received March 7, 2006
Accepted October 9, 2006
Published December 1, 2006

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.

Key words: Hb I-Philadelphia, Rare hemoglobin, HPLC, Blood donors

 

Copyright © 2006 by FUNPEC