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The Application of Clinical Genetics Volume 14, 2021 - Issue
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Original Research

A Novel Frameshift Mutation, Deletion of HBB:c.199_202delAAAG [Codon 66/67 (-AAAG)] in β-Thalassemia Major Patients from the Western Region of Uttar Pradesh, India

Waseem Chauhan1 Department of Zoology, Aligarh Muslim University, Aligarh, IndiaORCID Iconhttps://orcid.org/0000-0002-8980-8406
ORCID Icon,
Mohammad Afzal1 Department of Zoology, Aligarh Muslim University, Aligarh, IndiaCorrespondence[email protected]
,
Zeeba Zaka-ur-Rab2 Department of Pediatrics, Jawahar Lal Nehru Medical College, Aligarh Muslim University, Aligarh, India
&
Md Salik Noorani3 Department of Botany, Jamia Hamdard, New Delhi, India
Pages 77-85 | Published online: 01 Mar 2021

References

  • Weatherall DJ, Clegg JB. Inherited haemoglobin disorders: an increasing global health problem. Bull World Health Organ. 2001;79:704–712.
  • Angastiniotis M, Modell B. Global epidemiology of hemoglobin disorders. Ann N Y Acad Sci. 1998;850:251–269. doi:10.1111/j.1749-6632.1998.tb10482.x
  • Modell B, Darlison M, Birgens H, et al. Epidemiology of haemoglobin disorders in Europe: an overview. Scand J Clin Lab Invest. 2007;67(1):39–69. doi:10.1080/00365510601046557
  • Michlitsch J, Azimi M, Hoppe C, et al. Newborn screening for hemoglobinopathies in California. Pediatr Blood Cancer. 2009;52(4):486–490. doi:10.1002/pbc.21883
  • Mukherji M. Cooley’s anaemia (erythroblastic or Mediterranean anaemia). Indian J Pediatr. 1938;5(1):1–7. doi:10.1007/BF02957712
  • WHO. Joint WHO-TIF meeting on management of hemoglobin disorders (2nd: 2008: Nicosia, Cyprus). Geneva: World Health Organization; 2008. Available from: https://apps.who.int/iris/handle/10665/43969. Accessed February 22, 2021.
  • Mohanty D, Colah RB, Gorakshakar AC, et al. Prevalence of β-thalassemia and other haemoglobinopathies in six cities in India: a multicentre study. J Community Genet. 2013;4(1):33–42. doi:10.1007/s12687-012-0114-0
  • Huisman THJ, Carver MF, Baysal EA. Syllabus of Thalassemia Mutations. Augusta, GA: The Sickle Cell Anemia Foundation; 1997.
  • Christopher AF, Kumari A, Chaudhary S, Hora S, Ali Z, Agrawal SC. Unique pattern of mutations in β-thalassemia patients in Western Uttar Pradesh. Indian J Hum Genet. 2013;19(2):207–212. doi:10.4103/0971-6866.116119
  • Pirastru M, Manca L, Trova S, Mereu P. Biochemical and molecular analysis of the Hb Lepore Boston Washington in a Syrian homozygous child. Biomed Res Int. 2017;2017:1261972. doi:10.1155/2017/1261972
  • Kibbe WA. OligoCalc: an online oligonucleotide properties calculator’. Nucleic Acids Res. 2007;35(webserver issue):W43–W46. doi:10.1093/nar/gkm234
  • Corpet F. Multiple sequence alignment with hierarchical clustering. Nucleic Acids Res. 1988;16(22):10881–10890. doi:10.1093/nar/16.22.10881
  • George E, Li HJ, Fei YJ, et al. Types of thalassemia among patients attending a large university clinic in Kuala Lumpur, Malaysia. Hemoglobin. 1992;16(1–2):51–66. doi:10.3109/03630269209005676
  • Ibn Ayub M, Moosa MM, Sarwardi G, Khan W, Khan H, Yeasmin S. Mutation analysis of the HBB gene in selected Bangladeshi beta-thalassemic individuals: presence of rare mutations. Genet Test Mol Biomarkers. 2010;14(3):299–302. doi:10.1089/gtmb.2009.0160
  • Colah R, Gorakshakar A, Nadkarni A. Global burden, distribution and prevention of β-thalassemias and hemoglobin E disorders. Expert Rev Hematol. 2010;3(1):103–117. doi:10.1586/ehm.09.74
  • Kazazian HH Jr, Orkin SH, Antonarakis SE, et al. Molecular characterization of seven beta-thalassemia mutations in Asian Indians. EMBO J. 1984;3(3):593–596. doi:10.1002/j.1460-2075.1984.tb01853.x
  • Waterhouse A, Bertoni M, Bienert S, et al. SWISS-MODEL: homology modelling of protein structures and complexes. Nucleic Acids Res. 2018;46(W1):W296–W303. doi:10.1093/nar/gky427
  • Bienert S, Waterhouse A, de Beer TA, et al. The swiss-model repository-new features and functionality. Nucleic Acids Res. 2017;45(D1):D313–D319. doi:10.1093/nar/gkw1132
  • Edison ES, Shaji RV, Devi SG, et al. Analysis of beta globin mutations in the Indian population: presence of rare and novel mutations and region-wise heterogeneity. Clin Genet. 2008;73(4):331–337. doi:10.1111/j.1399-0004.2008.00973.x
  • Kulkarni GD, Kulkarni SS, Kadakol GS, et al. Molecular basis of β-thalassemia in Karnataka, India. Genet Test Mol Biomarkers. 2012;16(2):138–141. doi:10.1089/gtmb.2011.0035
  • Wang W, Knovich MA, Coffman LG, Torti FM, Torti SV. Serum ferritin: past, present and future. Biochim Biophys Acta. 2010;1800(8):760–769. doi:10.1016/j.bbagen.2010.03.011

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