Hemoglobin I-Philadelphia [alpha 16 (A14) LYS→GLU] heterozygote among blood donors from Brazil
| Contribuinte(s) |
Universidade Estadual Paulista (UNESP) |
|---|---|
| Data(s) |
10/09/2015
10/09/2015
01/01/2006
|
| Resumo |
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. |
| Formato |
713-716 |
| Identificador |
http://www.geneticsmr.com/articles/307 Genetics and Molecular Research, v. 5, n. 4, p. 713-716, 2006. 1676-5680 http://hdl.handle.net/11449/38238 WOS:000203012000013 2-s2.0-33845424973 WOS000203012000013.pdf |
| Idioma(s) |
eng |
| Publicador |
Funpec-editora |
| Relação |
Genetics and Molecular Research |
| Direitos |
openAccess |
| Palavras-Chave | #Hb I-Philadelphia #rare hemoglobin #HPLC #blood donors |
| Tipo |
info:eu-repo/semantics/article |
