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Hemoglobin
international journal for hemoglobin research
Volume 34, 2010 - Issue 4
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Short Communications

Identification of a New Mutation on the β-Globin Gene: Codons 8/9 (+AGAA); GAG.AAG.TCT(Glu-Lys-Ser)>GAG. AAAGAAG, in a Patient From the North of France with a Phenotype of β-Thalassemia Minor

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Pages 389-393 | Received 19 Dec 2009, Accepted 24 Apr 2010, Published online: 19 Jul 2010

REFERENCES

  • Rund D, Rachmilewitz E. β-Thalassemia. N Engl J Med. 2005;353(11):1135–1146.
  • Clarke GM, Higgins TN. Laboratory investigation of hemoglobinopathies and thalassemias: review and update. Clin Chem. 2000;46(8, Pt. 2):1284–1290.
  • 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.cse.psu.edu).
  • Hall GW, Barnetson RA, Thein SL. β-Thalassaemia in the indigenous British population. Br J Haematol. 1992;82(3):584–588.
  • Jamet D, Pissard S, Blouch MT, Berthou C, De Braekeleer M, Abgrall JF. β-Thalassemia in the indigenous population of Brittany: identification of three rare mutations. Haematologica. 2006;91(10):1418–1419.
  • 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.
  • Costes B, Girodon E, Ghanem N, Psoralen-modified oligonucleotide primers improve detection of mutations by denaturing gradient gel electrophoresis and provide an alternative to GC-clamping. Hum Mol Genet. 1993;2(4):393–397.
  • Méreau-Richard C, Maboudou P, Bauters F, Rousseaux J, Rose C. Identification of a novel mutation, codons 8/9 (+AGAA):GAG.AAG.TCT (GLU-LYS-SER)>GAG.AA AGAA G, in a patient of north European origin with β-thalassemia minor. Proceedings of the French Congress of the Society of Haematology held at Paris, France, March 2001. Hématologie. 2001;43.
  • Cai SP, Eng B, Francombe WH, Two novel β-thalassemia mutations in the 5′ and 3′ noncoding regions of the β-globin gene. Blood. 1992;79(5):1342–1346.
  • Pande PL, Prakash S, Tiwary RS, Kazanetz EG, Leonova JYu, Huisman THJ. β-Thalassemia intermedia in an Indian female with the Hb Hofu [β126(H4)Val→Glu]-β0-thalassemia [codons 8/9 (+G)] combination. Hemoglobin. 1995;19(5):301–306.
  • Waye JS, Eng B, Olivieri NF, Chui DH. Identification of a novel β0-thalassaemia mutation in a Greek family and subsequent prenatal diagnosis. Prenat Diagn. 1994;14(10):929–932.

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