The Spectrum of β-Thalassemia Mutations in a Population from the Brazilian Amazon

References

• Giardine B, Borg J, Viennas E, et al. Updates of the HbVar database of human hemoglobin variants and thalassemia mutations. Nucleic Acids Res. 2014;42(Database issue):D1063–D1069 (http://globin.cse.psu.edu)
   PubMed Web of Science ®Google Scholar
• Brasil: 500 Anos de Povoamento. Rio de Janeiro, Brazil: Instituto Brasileiro de Geografia Estatística (IBGE), 2007. (http://memoria.ibge.gov.br/publicacoes/brasil-500-anos-de-povoamento.html)
   Google Scholar
• Emmi MF. Italian Roots in Amazon Development, 1870-1950: Pioneering Economic and Identity. Ph.D. Dissertation, Federal University of Pará, Pará, Brazil, 2007
   Google Scholar
• Cao A, Gossens M, Pirastu M. β-Thalassemia mutations in Mediterranean populations. Br J Haematol. 1989;71(3):309–312
   PubMed Web of Science ®Google Scholar
• Rosatelli MC, Tuveri T, Scalas MT, et al. Molecular screening and fetal diagnosis of β-thalassemia in the Italian population. Hum Genet. 1992;89(6):585–589
   PubMed Web of Science ®Google Scholar
• Villegas A, Ropero P, Gonzalez FA, et al. The thalassemia syndromes: Molecular characterization in the Spanish population. Hemoglobin. 2001;25(3):273–283
   PubMed Web of Science ®Google Scholar
• Faustino P, Pacheco P, Loureiro P, et al. The geographic pattern of β-thalassaemia mutations in the Portuguese population. Br J Haematol. 1999;107(4):903–904
   PubMed Web of Science ®Google Scholar
• Tadmouri GO, Tüzmen S, Ozçelik H, et al. Molecular and population genetic analyses of β-thalassemia in Turkey. Am J Hematol. 1998;57(3):215–220
   PubMed Web of Science ®Google Scholar
• Baysal E, Indrak K, Bozkurt G, et al. The β-thalassaemia mutations in the population of Cyprus. Br J Haematol. 1992;81(4):607–609
   PubMed Web of Science ®Google Scholar
• Makhoul NJ, Wells RS, Kaspar H, et al. Genetic heterogeneity of β-thalassemia in Lebanon reflects historic and recent population migration. Ann Hum Genet. 2005;69(1):55–66
   PubMed Web of Science ®Google Scholar
• Antonarakis SE, Irkin SH, Cheng TC, et al. β-Thalassemia in American Blacks: Novel mutations in the “TATA” box and an acceptor splice site. Proc Natl Acad Sci USA. 1984;81(4):1154–1158
   PubMed Web of Science ®Google Scholar
• Orkin SH, Antonarakis SE, Kazazian HH Jr. Base substitution at position −88 in a β-thalassemic globin gene. Further evidence for the role of distal promoter element ACACCC. J Biol Chem. 1984;259(14):8679–8681
   PubMed Web of Science ®Google Scholar
• Martins CSB, Ramalho AS, Sonati MF, et al. Molecular characterization of β-thalassemia heterozygotes in Brazil. J Med Genet. 1993;30(9):797–798
   PubMed Web of Science ®Google Scholar
• Fonseca SF, Kerbauy J, Escrivao C, et al. Genetic analysis of β-thalassemia major and β-thalassemia intermedia in Brazil. Hemoglobin. 1998;22(3):197–207
   PubMed Web of Science ®Google Scholar
• Reichert VC, de Castro SM, Wagner SC, et al.. Identification of β thalassemia mutations in South Brazilians. Ann Hematol. 2008;87(5):381–384
   PubMed Web of Science ®Google Scholar
• Araújo AS, Silva WA, Leão SA, et al. A different molecular pattern of β-thalassemia mutation in northeast Brazil. Hemoglobin. 2003;27(4):211–217
   PubMed Web of Science ®Google Scholar
• Silveira ZML, Barbosa MV, Fernandes TAAM, et al. Characterization of β-thalassemia mutations in patients from the state of Rio Grande do Norte, Brazil. Genet Mol Biol. 2011;34(3):425–428
   PubMed Web of Science ®Google Scholar
• Poncz M, Schwartz E, Ballantine M, Surrey S. Nucleotide sequence analysis of the δβ-globin gene region in humans. J Biol Chem. 1983;258(19):11599–11609
   PubMed Web of Science ®Google Scholar
• Pereira R, Phillips C, Pinto N, et al. Straightforward inference of ancestry and admixture proportions through ancestry-informative insertion deletion multiplexing. PLoS ONE. 2012;7(1):e29684. doi: 10.1371/journal.pone.0029684
   PubMed Web of Science ®Google Scholar
• Rodrigues de Moura R, Coelho AV, de Queiroz Balbino V, et al. Meta-analysis of Brazilian genetic admixture and comparison with other Latin America countries. Am J Hum Biol. 2015;27(5):674–680. doi: 10.1002/ajhb.22714. [Epub ahead of print]
   PubMed Web of Science ®Google Scholar
• Miralles IM, Gilabert PB, Sirvent MP. Molecular abnormalities of thalassemia in Spain, a review of published studies. Med Clin (Barc). 1999;113(20):789–794
   PubMed Web of Science ®Google Scholar
• Muñiz A, Martinez G, Lavinha J, Pacheco P. β-Thalassaemia in Cubans: Novel allele increases the genetic diversity at the HBB locus in the Caribbean. Am J Hematol. 2000;64(1):7–14
   PubMed Web of Science ®Google Scholar
• Romana M, Keclard L, Guillemin E, et al. Molecular characterization of β-thalassemia mutations in Guadeloupe. Am J Hematol. 1996;53(4):228–233
   PubMed Web of Science ®Google Scholar
• Perea JF, Magaña MT, Cobian JG, et al. Molecular spectrum of β-thalassemia in the Mexican population. Blood Cells Mol Dis. 2004;33(2):150–152
   PubMed Web of Science ®Google Scholar
• Bravo-Urquiola M, Arends A, Gómez G, et al. Molecular spectrum of β-thalassemia mutations in the admixed Venezuelan population, and their linkage to β-globin gene haplotypes. Hemoglobin. 2012;36(3):209–218
   PubMed Web of Science ®Google Scholar
• Roldán A, Gutierrez A, Cygler A, et al. Molecular characterization of β thalassemia genes in an Argentine population. Am J Hematol. 1997;54(3):179–182
   PubMed Web of Science ®Google Scholar
• Rossetti LC, Targovnik HM, Varela V. The molecular basis of β-thalassemia in Argentina. Influence of the pattern of immigration from the Mediterranean Basin. Haematologica. 2004;88(6):746–747
   Google Scholar
• Lazarte SS, Mónaco ME, Haro AC, et al. Molecular characterization and phenotypical study of β-thalassemia in Tucumán, Argentina. Hemoglobin. 2014;38(6):394–401
   PubMed Web of Science ®Google Scholar
• Başak AN. The molecular pathology of β-thalassemia in Turkey: The Boğaziçi university experience. Hemoglobin. 2007;31(2):233–241
   PubMed Web of Science ®Google Scholar
• Perea FJ, Magaña MT, Esparza MA, Ibarra B. A frameshift at codons 77/78 (−C): A novel β-thalassemia mutation. Hemoglobin. 2004;28(3):261–265
   PubMed Web of Science ®Google Scholar