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Biallelic rare 17 bp deletion mutation (HBB:c.380_396 del TGCAGGCTGCCTATCAG) in a transfusion depended form of thalassemia

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References

  1. Tamhankar PM, Agarwal S, Arya V, Kumar R, Gupta UR, Agarwal SS (2009) Prevention of homozygous beta thalassemia by premarital screening and prenatal diagnosis in India. Prenat Diagn 29(1):83–88

    Article  Google Scholar 

  2. Agarwal S, Pradhan M, Gupta UR, Samai S, Agarwal SS (2000) Geographic and ethnic distribution of β-thalassemia mutations in Uttar Pradesh, India. Hemoglobin 24(2):89–97

    Article  CAS  Google Scholar 

  3. Dehury S, Meher S, Patel S, Das K, Jana A, Bhattacharya S, Sahoo S, Sarkar B, Mohanty PK (2019) Compound heterozygote of HbS (HBB: c.20A>T)/Hb Westdale (HBB: c.380_396delTGCAGGCTGCCTATCAG): report of four cases from Odisha State, India. Hemoglobin 43(2):132–136. https://doi.org/10.1080/03630269.2019.1602052

    Article  CAS  PubMed  Google Scholar 

  4. Waye JS, Eng B, Francombe WH, Chui DHK (1995) Novel seventeen base pair deletion in exon 3 of the β-globin gene. Hum Mutat 6(3):252–253

    Article  CAS  Google Scholar 

  5. Nadkarni A, Sakaguchi T, Takaku H et al (2002) A novel β0-thalassemia mutation at codon 55 (−A) and a rare 17 bp deletion at codons 126–131 in the Indian population. Hemoglobin 26(1):41–47 136

    Article  CAS  Google Scholar 

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Acknowledgments

Poonam Tripathi is thankful to ICMR New Delhi for her fellowship.

Funding

This study is funded by ICMR, New Delhi and Sanjay Gandhi Post Graduate Institute of Medical Sciences for providing infrastructure facilities.

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Correspondence to Sarita Agarwal.

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Informed consent was obtained from all individual participants included in the study.

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All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional. This article does not contain any studies with animals performed by any of the authors.

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Tripathi, P., Agarwal, S., Gupta, A. et al. Biallelic rare 17 bp deletion mutation (HBB:c.380_396 del TGCAGGCTGCCTATCAG) in a transfusion depended form of thalassemia. Ann Hematol 99, 2719–2722 (2020). https://doi.org/10.1007/s00277-020-04017-2

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  • DOI: https://doi.org/10.1007/s00277-020-04017-2

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