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Hemoglobin
international journal for hemoglobin research
Volume 37, 2013 - Issue 4
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Original Article

Silent β-Thalassemia Mutations at −101 (C>T) and −71 (C>T) and Their Coinheritance with the Sickle Cell Mutation in Bahrain

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Pages 369-377 | Received 13 Sep 2012, Accepted 22 Dec 2012, Published online: 15 Apr 2013

REFERENCES

  • Nadkarni KV, Al-Arrayed SS, Bapat JP. Incidence of genetic disorders of hemoglobins in the hospital population of Bahrain. Bahrain Med Bull. 1991;13(1):19–24.
  • Mohammed AM, Al-Hilli F, Nadkarni KV, Hemoglobinopathies and glucose-6-phosphate dehydrogenase deficiency in hospital births in Bahrain. Ann Saudi Med. 1992;12(6):536–539.
  • Jassim N, Merghoub T, Pascaud O, Molecular basis of β-thalassemia in Bahrain: an epicenter for a Middle East specific mutation. Ann NY Acad Sci. 1998;850:407–409.
  • Jassim N, Al-Arrayed SS, Al-Mukharraq H, Spectrum of β-thalassemia mutations in Bahrain. Bahrain Med Bull. 2000;22(1):8–12.
  • Jassim N, Al-Arrayed SS, Gerard N, Molecular basis of α-thalassemia in Bahrain. Bahrain Med Bull. 2001;23(1):3–7.
  • Weatherall DJ, Clegg JB. The Thalassaemia Syndromes, 4th ed. Oxford: Blackwell Science, 2001.
  • Schwartz E. The silent carrier of β thalassemia. N Engl J Med. 1969;281(24):1327–1333.
  • Gonzalez-Redondo JM, Stoming TA, Kutlar A, 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.
  • Akbari MT, Izadi P, Izadyar M, Kyriacou K, Kleanthous M. Molecular basis of thalassemia intermedia in Iran. Hemoglobin. 2008;32(5):462–470.
  • Al Zadjali S, Wali Y, Al Lawatiya F, The β-globin promoter −71 C>T mutation is a β+ thalassemic allele. Eur J Haematol. 2011;87(5):457–460.
  • Ghanem N, Girodon E, Vidaud M, Comprehensive scanning method for rapid detection of β-globin gene mutations and polymorphisms. Hum Mutat. 1992;1(3):229–239.
  • Dode C, Rochette J, Krishnamoorthy R. Locus assignment of human α globin mutations by selective amplification and direct sequencing. Br J Haematol. 1990;76(6):275–281.
  • Baysal E, Huisman THJ. Detection of common deletional α-thalassemia-2 determinants by PCR. Am J Hematol. 1994;46(3):208–213.
  • Kattamis AC, Camacshella C, Sivera P, Human α-thalassemia syndrome: detection of molecular defects. Am J Hematol. 1996;53(2):81–91.
  • JassimN, Al-Arrayed SS, Gerard N, A mismatched-primer polymerase chain reaction fragment length polymorphism strategy for rapid screening of the polyadenylation signal mutation αT–Saudi (AATAAA→AATAAG) in the α2-globin gene. Hemoglobin. 1999;23(3):213–220.
  • 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 (http://globin.cse.psu.edu).
  • Perkin AC, Sharpe AH, Orkin SH. Lethal β-thalassemia in mice lacking the erythroid CACCC-transcription factor EKLF. Nature. 1995;375(6529):318–322.
  • Funnell AP, Norton LJ, Mak, The CACCC-binding protein KLF3/BKLF represses a subset of KLF/EKLF target genes and is required for proper erythroid maturation in vivo. Mol Cell Biol. 2012;32(16):3281–3292.
  • Gordon CT, Fox VI, Najdovska S, Perkins AC. C/EBPδ and C/EBPγ bind the CCAAT-box in the human β-globin promoter and modulate the activity of the CACC-box binding protein, EKLF. Biochim Biophys Acta. 2005;1729(1):74–80.

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