Identification Of β Thalassemia Mutations In South Brazilians

dc.creatorReichert V.C.D.
dc.creatorCastro S.M.
dc.creatorWagner S.C.
dc.creatorAlbuquerque D.M.
dc.creatorHutz M.H.
dc.creatorLeistner-Segal S.
dc.date2008
dc.date2015-06-30T19:34:01Z
dc.date2015-11-26T14:45:42Z
dc.date2015-06-30T19:34:01Z
dc.date2015-11-26T14:45:42Z
dc.date.accessioned2018-03-28T21:54:59Z
dc.date.available2018-03-28T21:54:59Z
dc.identifier
dc.identifierAnnals Of Hematology. , v. 87, n. 5, p. 381 - 384, 2008.
dc.identifier9395555
dc.identifier10.1007/s00277-007-0418-z
dc.identifierhttp://www.scopus.com/inward/record.url?eid=2-s2.0-41549124204&partnerID=40&md5=daf07d307e94268727bcf6a002c1096d
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/106688
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/106688
dc.identifier2-s2.0-41549124204
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1252554
dc.descriptionWe have evaluated the mutation profile in a sample of 127 unrelated β-thalassemia (β thal) individuals, diagnosed through A2 and fetal hemoglobin quantification by high-performance liquid chromatography (HPLC) from the Brazilian southernmost state, where a flow of Italian immigrants had occurred in the late 19th century, mainly from Northern Italy. The molecular analysis was performed by DNA sequencing of the most common mutations found in the Mediterranean region. The β0 codon 39 nonsense mutation was the most frequent alteration (50.9%), followed by β+ IVSI 110 G>A (18.1%), β0 IVSI 1 G>A (12.9%), β+ IVSI 6 T>C (9.5%), and other rare mutations (8.6%). The chosen gene sequence was able to identify 91% β-thal mutations in the population studied, showing some similarity with allele frequencies of the mainly colonizing countries of Rio Grande do Sul state. The comparison of our results to other Brazilian studies has shown significant differences. Therefore, we can conclude that the genotypic profile of β-thal shows great variability. Hence, it would be arbitrary to infer regional study results as being representative of the Brazilian whole population. Brazilian researchers of different regions should identify their most frequent genotypes to provide better understanding on this disease and state adequate public health policies. © Springer-Verlag 2007.
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dc.languageen
dc.publisher
dc.relationAnnals of Hematology
dc.rightsfechado
dc.sourceScopus
dc.titleIdentification Of β Thalassemia Mutations In South Brazilians
dc.typeArtículos de revistas


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