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Hemoglobin
international journal for hemoglobin research
Volume 35, 2011 - Issue 4
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Original Article

Molecular Analysis of β-Thalassemia Patients: First Identification of Mutations HBB:c.93-2A>G and HBB:c.114G>A in Brazil

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Pages 358-366 | Received 16 Dec 2010, Accepted 14 Apr 2011, Published online: 28 Jul 2011

REFERENCES

  • Hardison RC, Chui DHK Giardine B, HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server. Hum Mutat. 2002;19(3):225–233.
  • Patrinos GP, Giardine B, Riemer C, Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies. Nucleic Acids Res. 2004;32( Database issue):D537–D541.
  • Giardine B, van Baal S, Kaimakis P, HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update. Hum Mutat. 2007;28(2):206.
  • Rund D, Rachmilewitz E. β-Thalassemia. N Engl J Med. Sep 15 2005;353(11):1135–1146.
  • Papachatzopoulou A, Kourakli A, Makropoulou P, Genotypic heterogeneity and correlation to intergenic haplotype within high Hb F β-thalassemia intermedia. Eur J Haematol. 2006;76(4):322–330.
  • Thein SL. Genetic modifiers of the β haemoglobinopathies. Br J Haematol. 2008;141(3):357–366.
  • Olivieri NF. The β-thalassemias. N Engl J Med. 1999;341(2):99–109.
  • Kanavakis E, Wainscoat JS, Wood WG, The interaction of α thalassaemia with heterozygous β thalassaemia. Br J Haematol. 1982;52(3):465–473.
  • Kanavakis E, Metaxotou-Mavromati A, Kattamis C, Wainscoat JS, Wood WG. The triplicated α gene locus and β thalassaemia. Br J Haematol. 1983;54(2):201–207.
  • Rund D, Fucharoen S. Genetic modifiers in hemoglobinopathies. Curr Mol Med. 2008;8(7):600–608.
  • Winichagoon P, Fucharoen S, Chen P, Wasi P. Genetic factors affecting clinical severity in β-thalassemia syndromes. J Pediatr Hematol Oncol. 2000;22(6):573–580.
  • Fonseca SF, Kerbauy J, Escrivao C, Genetic analysis of β-thalassemia major and β-thalassemia intermedia in Brazil. Hemoglobin. 1998;22(3):197–207.
  • Ragusa A, Lombardo M, Beldjord C, Genetic epidemiology of β-thalassemia in Sicily: do sequences 5′ to the Gγ gene and 5′ to the β gene interact to enhance Hb F expression in β-thalassemia? Am J Hematol. 1992;40(3):199–206.
  • Merghoub T, Maier-Redelsperger M, Labie D, Variation of fetal hemoglobin and F-cell number with the LCR-HS2 polymorphism in non anemic individuals. Blood. 1996;87(6):2607.
  • Sampietro M, Thein SL, Contreras M, Pazmany L. Variation of Hb F and F-cell number with the Gγ Xmn I (C→T) polymorphism in normal individuals. Blood. 1992;79(3):832–833.
  • Liu D, Chang JC, Moi P, Liu W, Kan YW, Curtin PT. Dissection of the enhancer activity of β-globin 5′ DNase I-hypersensitive site 2 in transgenic mice. Proc Natl Acad Sci USA. 1992;89(9):3899–3903.
  • Oner C, Dimovski AJ, Altay C, Sequence variations in the 5′ hypersensitive site-2 of the locus control region of βS chromosomes are associated with different levels of fetal globin in Hemoglobin S homozygotes. Blood. 1992;79(3):813–819.
  • Stamatoyannopoulos G, Nienhuis AW. Hemoglobin switching. In: Stamatoyannopoulos G, Nienhuis AW, Majerus P, Varmus H, Eds. Molecular Basis of Blood Diseases, 2nd ed. Philadelphia: W.B. Saunders. 1994:107–155.
  • Figueirido MS, Steinberg MH. 5′ hypersensitive site-2 and fetal hemoglobin in Brazilians. Hemoglobin. 1996;20(4):435–438.
  • Figueiredo MS, Steinberg MH. Fetal hemoglobin in sickle cell anemia: examination of phylogenetically conserved sequences within the locus control region but outside the cores of hypersensitive sites 2 and 3. Blood Cells Mol Dis. 1997;23(2):188–200.
  • Ofori-Acquah SF, Lalloz MR, Layton DM. Localization of cis regulatory elements at the β-globin locus: analysis of hybrid haplotype chromosomes. Biochem Biophys Res Commun. 1999;254(1):181–187.
  • Ofori-Acquah SF, Lalloz MR, Layton DM. Nucleotide variation regulates the level of enhancement by hypersensitive site 2 of the β-globin locus control region. Blood Cells Mol Dis. 2001;27(5):803–811.
  • Adorno EV, Moura-Neto JP, Lyra I, Sequence change in the HS2-LCR and Gγ-globin gene promoter region of sickle cell anemia patients. Braz J Med Biol Res. 2008;41(2):95–98.
  • Zago MA, Costa FF. Hereditary haemoglobin disorders in Brazil. Trans R Soc Trop Med Hyg. 1985;79(3):385–388.
  • Reichert VC, de Castro SM, Wagner SC, de Albuquerque DM, Hutz MH, Leistner-Segal S. Identification of β thalassemia mutations in South Brazilians. Ann Hematol. 2008;87(5):381–384.
  • Martins CS, Ramalho AS, Sonati MF, Goncalves MS, Costa FF. Molecular characterisation of β thalassaemia heterozygotes in Brazil. J Med Genet. 1993;30(9):797–798.
  • Araujo AS, Silva WA, Leao SA, A different molecular pattern of β-thalassemia mutations in northeast Brazil. Hemoglobin. 2003;27(4):211–217.
  • Lee TH, Sakahara NS, Fiebig EW, Hirschkorn DF, Johnson DK, Busch MP. Quantitation of white cell subpopulations by polymerase chain reaction using frozen whole-blood samples. Viral Activation Transfusion Study. Transfusion. 1998;38(3):262–270.
  • Losekoot M, Fodde R, Harteveld CL, van Heeren H, Giordano PC, Bernini LF. Denaturing gradient gel electrophoresis and direct sequencing of PCR amplified genomic DNA: a rapid and reliable diagnostic approach to β thalassaemia. Br J Haematol. 1990;76(2):269–274.
  • Myers RM, Maniatis T, Lerman LS. Detection and localization of single base changes by denaturing gradient gel electrophoresis. Methods Enzymol. 1987;155:501–527.
  • Oron-Karni V, Filon D, Oppenheim A, Rund D. Rapid detection of the common Mediterranean α-globin deletions/rearrangements using PCR. Am J Hematol. 1998;58(4):306–310.
  • Sutton M, Bouhassira EE, Nagel RL. Polymerase chain reaction amplification applied to the determination of β-like globin gene cluster haplotypes. Am J Hematol. 1989;32(1):66–69.
  • Costa FF, Tavella MH, Zago MA. β-Thalassemia intermedia and IVS-1 NT6 homozygosis in Brazil. Braz J Med Biol Res. 1991;24(2):157–161.
  • Cao A, Galanello R, Rosatelli MC. Genotype-phenotype correlations in β-thalassemias. Blood Rev. 1994;8(1):1–12.
  • Ratip S, Petrou M, Old JM, Wonke B, Porter JB, Modell B. Relationship between the severity of β-thalassaemia syndromes and the number of alleviating mutations. Eur J Haematol. 1997;58(1):14–21.
  • Ho PJ, Hall GW, Luo LY, Weatherall DJ, Thein SL. Phenotypic prediction in β-thalassemia. Ann NY Acad Sci. 30 1998;850:436–441.
  • dos Santos CO, Costa FF. AHSP and β-thalassemia: a possible genetic modifier. Hematology. 2005;10(2):157–161.
  • Vetter B, Schwarz C, Kohne E, Kulozik AE. β-Thalassaemia in the immigrant and non-immigrant German populations. Br J Haematol. 1997;97(2):266–272.
  • Boehm CD, Dowling CE, Waber PG, Giardina PJ, Kazazian HH, Jr. Use of oligonucleotide hybridization in the characterization of a β0-thalassemia gene (β37 TGG→TGA) in a Saudi Arabian family. Blood. 1986;67(4):1185–1188.
  • Kukreti R, Dash D, E VK, Spectrum of β-thalassemia mutations and their association with allelic sequence polymorphisms at the β-globin gene cluster in an Eastern Indian population. Am J Hematol. 2002;70(4):269–277.
  • Tatu T, Thein S. Automated genotyping for accurate assignment of the (AT)xNz(AT)y motif within the β-globin locus control region-hypersensitive site 2. Br J Haematol. 2001;112(2):488–492.
  • den Dunnen JT, Antonarakis SE. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat. 2000;15(1):7–12.

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