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Influence of single nucleotide polymorphisms in the BCL11A and HBS1L-MYB gene on the HbF levels and clinical severity of sickle cell anaemia patients

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References

  1. Colah R, Mukherjee M, Ghosh K (2014) Sickle cell disease in India. Curr Opin Hematol 21:215–223

    Article  PubMed  Google Scholar 

  2. Akinsheye I, Alsultan A, Solovieff N, Ngo D, Baldwin CT, Sebastiani P, Chui DHK, Steinberg MH (2011) Fetal hemoglobin in sickle cell anemia. Blood 118:19–27

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  3. Lettre G, Sankaran VG, Bezerra MA, Arau’jo AS, Uda M, Sanna S, Cao A, Schlessinger D, Costa FF, Hirschhorn JN, Orkin SH (2008) DNA polymorphism at the BCL11A, HBS1L-MYB, and β-globin loci associates with fetal haemoglobin levels and pain crises in sickle cell disease. Proc Natl Acad Sci U S A 105:11869–11874

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  4. Italia K, Jain D, Gattani S, Jijina F, Nadkarni A, Sawant P, Nair S, Mohanty D, Ghosh K, Colah R (2009) Hydroxyurea in sickle cell disease—a study of clinico-pharmacological efficacy in the Indian haplotype. Blood Cells Mol Dis 42:25–31

    Article  CAS  PubMed  Google Scholar 

  5. van den Tweel XW, van der Lee JH, Heijboer H, Peters M, Fijnvandraat K (2010) Development and validation of a pediatric severity index for sickle cell patients. Am J Hematol 85:746–751

    Article  PubMed  Google Scholar 

  6. Adegoke SA, Kuti BP (2013) Evaluation of clinical severity of sickle cell anemia in Nigerian children. J Appl Hematol 4:58–64

    Google Scholar 

  7. Jiang J, Best S, Menzel S, Silver N, Lai MI, Surdulescu GL, Spector TD, Thein SL (2006) cMYB is involved in the regulation of fetal hemoglobin production in adults. Blood 108:1077–1083

    Article  CAS  PubMed  Google Scholar 

  8. Sankaran VG, Menne TF, Xu J, Akie TE, Lettre G, Van Handel B, Mikkola HK, Hirschhorn JN, Cantor AB, Orkin SH (2008) Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A. Science 322:1839–1842

    Article  CAS  PubMed  Google Scholar 

  9. Cardoso GL, Diniz IG, Silva AN, Cunha DA, Silva Junior JS, Uchôa CT, Santos SE, Trindade SM, Cardoso Mdo S, Guerreiro JF (2014) DNA polymorphisms at BCL11A, HBS1L-MYB and Xmn1-HBG2 site loci associated with fetal hemoglobin levels in sickle cell anemia patients from Northern Brazil. Blood Cells Mol Dis 53:176–179

    Article  CAS  PubMed  Google Scholar 

  10. Makani J, Menzel S, Nkya S, Cox SE, Drasar E, Soka D, Komba AN, Mgaya J, Rooks H, Vasavda N, Fegan G, Newton CR, Farrall M, Thein SL (2011) Genetics of fetal hemoglobin in Tanzanian and British patients with sickle cell anemia. Blood 117:1390–1392

    Article  CAS  PubMed  Google Scholar 

  11. Galanello R, Sanna S, Perseu L, Sollaino MC, Satta S, Lai ME, Barella S, Uda M, Usala G, Abecasis GR, Cao A (2009) Amelioration of Sardinian beta0 thalassemia by genetic modifiers. Blood 114:3935–3937

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  12. Kar BC, Satapathy RK, Kulozik AE, Kulozik M, Sirr S, Serjeant BE, Serjeant GR (1986) Sickle cell disease in Orissa State, India. Lancet 22:1198–1201

    Article  Google Scholar 

  13. Kulozik AE, Wainscoat JS, Serjeant GR, Kar BC, Al-Awamy B, Essan GJ, Falusi AG, Haque SK, Hilali AM, Kate S, Ranasinghe WAEP, Weatherall DJ (1986) Geographical survey of beta S-globin gene haplotypes: evidence for an independent Asian origin of the sickle-cell mutation. Am J Hum Genet 39:239–244

    CAS  PubMed  PubMed Central  Google Scholar 

  14. Roy P, Bhattacharya G, Mandal A, Dasgupta UB, Banerjee D, Chandra S, Das M (2012) Influence of BCL11A, HBS1L-MYB, HBBP1 single nucleotide polymorphisms and the HBG2 XmnI polymorphism On Hb F levels. Hemoglobin 36:592–599

    Article  CAS  PubMed  Google Scholar 

  15. Bhanushali AA, Patra PK, Nair D, Verma H, Das BR (2015) Genetic variant in the BCL11A (rs1427407), but not HBS1L-MYB (rs6934903) loci associate with fetal hemoglobin levels in Indian sickle cell disease patients. Blood Cells Mol Dis 54:4–8

    Article  CAS  PubMed  Google Scholar 

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Acknowledgments

This study was funded by the Department of Biotechnology, Government of India.

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Authors and Affiliations

  1. National Institute of Immunohaematology, (Indian Council of Medical Research), 13th floor, New Multistoried Building, K.E.M. Hospital Campus, Parel, Mumbai, 400012, India

    Dipti Upadhye, Anita Nadkarni, Kanjaksha Ghosh & Roshan Colah

  2. Government Medical College, Nagpur, 440003, India

    Dipty Jain & Yogesh Trivedi

Authors
  1. Dipti Upadhye
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  2. Dipty Jain
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  3. Yogesh Trivedi
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  4. Anita Nadkarni
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  5. Kanjaksha Ghosh
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  6. Roshan Colah
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Correspondence to Roshan Colah.

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Upadhye, D., Jain, D., Trivedi, Y. et al. Influence of single nucleotide polymorphisms in the BCL11A and HBS1L-MYB gene on the HbF levels and clinical severity of sickle cell anaemia patients. Ann Hematol 95, 1201–1203 (2016). https://doi.org/10.1007/s00277-016-2675-1

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  • DOI: https://doi.org/10.1007/s00277-016-2675-1

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