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Hemoglobin
international journal for hemoglobin research
Volume 42, 2018 - Issue 2
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Original Article

Molecular Characterization of β-Thalassemia Mutations Via the Amplification Refractory Mutation System-Polymerase Chain Reaction Method at the North Waziristan Agency, Pakistan

, , , , , , & show all
Pages 91-95 | Received 19 Jan 2018, Accepted 21 May 2018, Published online: 11 Sep 2018

References

  • Weatherall DJ. Thalassemia as a global health problem: recent progress toward its control in the developing countries. Ann NY Acad Sci. 2010;1202:17–23.
  • Khan SN, Ahmad UZ, Riazuddin S. Molecular genetic diagnosis of β thalassemia in Pakistan. JPMA. 1995;45(3):66–70.
  • Thein SL. The molecular basis of β-thalassemia. Cold Spring Harb Perspect Med. 2013;3(5):a011700.
  • Noordermeer D, de Laat W. Joining the loops. β-Globin gene regulation. IUBMB Life. 2008;60(12):824–833.
  • 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).
  • Muhammad R, Shakeel M, Rehman SU, Lodhi MA. Population-based genetic study of β-thalassemia mutations in Mardan Division, Khyber Pakhtunkhwa Province, Pakistan. Hemoglobin. 2017;41(2):104–109.
  • Jaliliana M, Jalilianb FA, Ahmadic L, et al. The frequency of HBB mutations among β-thalassemia patients in Hamadan Province, Iran. Hemoglobin. 2017;41(1):61–64.
  • Ansari SH, Shamsi TS, Ashraf M, et al. Molecular epidemiology of β-thalassemia in Pakistan: far reaching implications. Int J Mol Epidemiol Genet. 2011;2(4):403–408.
  • Williams TN, Weatherall DJ. World distribution, population genetics, and health burden of the hemoglobinopathies. Cold Spring Harb Perspect Med. 2012;2(9):a011692.
  • Ahmed S, Saleem M, Modell B, Petrou M. Screening extended families for genetic hemoglobin disorders in Pakistan. N Eng J Med. 2002;347(15):1162–1168.
  • Hafeez M, Aslam M, Ali A, et al. Regional and ethnic distribution of β thalassemia mutations and effect of consanguinity in patients referred for prenatal diagnosis. J Coll Physicians Surg Pak. 2007;17(3):144–147.
  • Hussain A, Ahmed S, Ali N, et al. Rare β-globin gene mutations in Pakistan. Hemoglobin. 2017;41(2):100–103.
  • Rahim F, Abromand M. Spectrum of β-thalassemia mutations in various ethnic regions of Iran. Pak J Med Sci. 2008;24(3):410–415.
  • Khan MS, Ahmed M, Khan RA, et al. Consanguinity ratio in β-thalassemia major patients in District Bannu. J Pak Med Assoc. 2015; 65(11):1161–1163.
  • Shakeel M, Arif M, Rehman SU, Yaseen T. Investigation of molecular heterogeneity of β-thalassemia disorder in District Charsadda of Pakistan. Pak J Med Sci. 2016; 32(2):491–494.
  • Colah R, Gorakshakar A, Nadkarni A, et al. Regional heterogeneity of β-thalassemia mutations in the multi ethnic Indian population. Blood Cells Mol Dis. 2009;42(3):241–246.
  • Usman M, Moinuddin M, Ghani R, Usman S. Screening of five common β thalassemia mutations in the Pakistani population. A basis for prenatal diagnosis. Sultan Qaboos Univ Med J. 2009;9(3):305–310.
  • Ahmed S. Genetic haemoglobin disorders in Pakistan. Nat J Health Sci. 2017;2(1):95–99.
  • Khateeb B, Moatter T, Shaghil AM, et al. Genetic diversity of β-thalassemia mutations in Pakistani population. JPMA. 2000;50(9):293–296.
  • Shakeel M, Ishfaq M, Rehman SU, et al. Monitoring molecular heterogeneity of β-thalassemia syndrome in District Nowshehra. Sci Technol Dev. 2016;35(1):42–46.

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