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Hemoglobin
international journal for hemoglobin research
Volume 41, 2017 - Issue 4-6
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Short Communication

A Novel β-Thalassemia Insertion/Frameshift Mutation Between Codons 77/78 (p.Leu78Profs*13 or HBB: c.235_236insC) Observed in a Family in Bangladesh

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Pages 311-313 | Received 02 Jul 2017, Accepted 14 Nov 2017, Published online: 09 Jan 2018

References

  • El-Harith E, Kuhanau W, Schimidtke J, et al. Identification and clinical presentation of β thalassemia mutations in the eastern region of Saudi Arabia. J Med Genet. 1999;36(12):936–937.
  • Weatherall D, Clegg JB. The Thalassaemia Syndromes, 4th ed. Oxford (Oxfordshire, UK): Blackwell Science, 2001.
  • Report of Joint World Health Organisation-Thalassaemia International Federation (WHO-TIF) Meeting on the Management of Haemoglobin Disorders. Nicosia, Cyprus, 16-18 November 2007. World Health Organ. 2008:1–2.
  • Modell B, Darlison M. Global epidemiology of haemoglobin disorders and derive service indicators. Bull World Organ. 2008,86(6);480–487.
  • Khan WA, Banu B, Amin SK, et al. Prevalence of β thalassemia trait and Hb E trait in Bangladeshi school children and health burden of thalassemia in our population. DS (Child) HJ. 2005;21(1):1–7.
  • Huisman THJ, Carver MFH. The β- and δ-thalassemia repository (ninth edition; part II). Hemoglobin. 1998;22(3):287–310.
  • 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).
  • Varawalla NY, Old JM, Sarka R, et al. The spectrum of β-thalassaemia mutations on the Indian subcontinent: the basis for prenatal diagnosis. Br J Haematol. 1991;78(2):242–247.
  • Clark BE, Thein SL. Molecular diagnosis of haemoglobin disorders. Clin Lab Haematol. 2004;26(3):159–176.
  • Ibn Ayub M, Moosa MM, Sarwardi G, et al. Mutation analysis of the HBB gene in selected Bangladeshi β-thalassemic individuals: presence of rare mutations. Genet Test Mol Biomarkers. 2010;14(3):299–302.
  • Rahman S, Ahmed T, Rahman AS, et al. Determinants of iron status and Hb in the Bangladesh population: the role of groundwater iron. Public Health Nutr. 2016;19(10):1862–1874.
  • Maquat LE. Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics. Nat Rev Mol Cell Biol. 2004;5(2):89–99.
  • Li DZ, Liao C, Li J. A novel β-thalassemic allele due to a thirteen nucleotide deletion: codons 54-58 (–TATGGGCAACCCT). Ann Hematol. 2009;88(8):799–801.
  • Li DZ, Liao C, Li J, Li R. A novel β-globin gene deletion (codons 89-93) in a Chinese family. Ann Hematol. 2010;89(3):323–325.
  • Liao C, Li DZ, Li J. First detection of the codons 41-43 (–CTTTG, +A) β-thalassemia mutation in a Chinese patient. Ann Hematol. 2008;87(9):775–776.
  • Ozkinay F, Onay H, Karaca E, et al. Molecular basis of β-thalassemia in the population of the Aegean region of Turkey: identification of a novel deletion mutation. Hemoglobin. 2015;39(4):230–234.

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