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Hemoglobin
international journal for hemoglobin research
Volume 33, 2009 - Issue 3-4
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Short Communications

First Identification of a Point Mutation at Position −83 (G>A) of the β-Globin Gene Promoter

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Pages 274-278 | Received 09 Jul 2008, Accepted 06 Mar 2009, Published online: 15 Sep 2009

REFERENCES

  • Thein SL, Rochette J. Disorders of hemoglobin structure and synthesis. Principles of Molecular Medicine, JL Jameson. Humana Press, Totowa, NJ 1998; 179–190
  • Weatherall DJ, Clegg JB. The Thalassaemia Syndromes4th. Blackwell Scientific Publications, Oxford 2001
  • Foulon K, Rochette J, Cadet E. A novel β-thalassemic allele due to a two nucleotide deletion: β76 (−GC). Hemoglobin. 2007; 31(1)31–37
  • Trifillis P, Ioannou P, Schwartz E, Surrey S. Identification of four novel δ-globin gene mutations in Greek Cypriots using polymerase chain reaction and automated fluorescence-based DNA sequence analysis. Blood. 1991; 78(12)3298–3305
  • Bouva MJ, Harteveld CL, Van Delft P, Giordano PC. Known and new δ globin gene mutations and their diagnostic significance. Haematologica. 2006; 91(1)129–132
  • Rochette J, Barnetson R, Kiger L, et al. Association of a novel high oxygen affinity haemoglobin variant with δβ thalassaemia. Br J Haematol. 1994; 86(1)118–124
  • Dode C, Krishnamoorthy R, Lamb J, Rochette J. Rapid analysis of −α3.7 thalassaemia and αααanti-3.7 triplication by enzymatic amplification analysis. Br J Haematol 1993; 83(1)105–111
  • Liu YT, Old JM, Miles K, Fisher CA, Weatherall DJ, Clegg JB. Rapid detection of α-thalassaemia deletions and α-globin gene triplication by multiplex polymerase chain reactions. Br J Haematol. 2000; 108(2)295–299
  • Seger J, Languillat G. Serum proteins and erythrocyte enzymes. Evaluation of frequencies in 2 populations in the Gabon. Rev Fr Transfus Immunohematol. 1978; 21(3)795–804
  • Agouti I, Bennani M, Meyer N, Levy N, Badens C. β-Thalassaemia intermedia due to two novel mutations in the promoter region of the β-globin gene. Eur J Haematol. 2008; 80: 346–350
  • Aguilar-Martinez P, Jourdan E, Brun S. et al. A novel mutation of the β-globin gene promoter (−102 C>A) and pitfalls in family screening. Am J Hematol 2007; 82(12)1088–1090
  • Bianco I, Cappabianca MP, Foglietta E, et al. Silent thalassemias: genotypes and phenotypes. Haematologica. 1997; 82(3)269–280
  • Gonzalez-Redondo JM, Stoming TA, Kutlar A, et al. A C→T substitution at nt −101 in a conserved DNA sequence of the promoter region of the β-globin gene is associated with “silent” β-thalassemia. Blood. 1989; 73(6)1705–1711
  • http://globin.cse.psu.edu, Patrinos GP, Giardine B, Riemer C, et al. 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
  • http://globin.sce.psu.edu, Hardison RC, Chui DHK, Giardine B, et al. HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server. Hum Mutat. 2002;19(3):225–233
  • Fei YJ, Stoming TA, Efremov GD, et al. β‐Thalassemia due to a T→A mutation within the ATA box. Biochem Biophys Res Commun. 1988; 153(2)741–747
  • Chen XW, Mo QH, Li Q, Zeng R, Xu XM. A novel mutation of −73 (A→T) in the CCAT box of the β-globin gene identified in a patient with the mild β-thalassemia intermedia. Ann Hematol. 2007; 86(9)653–657
  • Galanello R, Barella S, Ideo A, et al. Genotype of subjects with borderline Hemoglobin A2 levels: Implication for β-thalassemia carrier screening. Am J Hematol. 1994; 46(2)79–81
  • Thein SL. β-Thalassaemia. Bailliere's Clin Haematol. 1998; 11(1)91–126

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