Hemoglobin I-Philadelphia [alpha 16 (A14) LYS-->GLU] heterozygote among blood donors from Brazil

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...

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Bibliographic Details
Published in:Genetics and molecular research 2006-01, Vol.5 (4), p.713-716
Main Authors: Torres, F R, Ondei, L S, Zamaro, P J A, Silva, R U, Cavasini, C E, Rossit, A R B, Machado, R L D, Bonini-Domingos, C R
Format: Article
Language:English
Subjects:
Adult
Blood Donors
Brazil
Chromatography, High Pressure Liquid
Electrophoresis
Hemoglobins, Abnormal - analysis
Hemoglobins, Abnormal - genetics
Heterozygote
Humans
Male
Mutation - genetics
Sequence Analysis, DNA
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Summary: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.
ISSN:1676-5680
1676-5680