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