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Published in: Annals of Hematology 11/2020

01-11-2020 | Thalassemia | Letter to the Editor

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

Authors: Poonam Tripathi, Sarita Agarwal, Anshul Gupta, Kausik Mandal

Published in: Annals of Hematology | Issue 11/2020

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Excerpt

Dear Editor, …
Literature
1.
go back to reference 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):83–88CrossRef 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):83–88CrossRef
2.
go back to reference 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):89–97CrossRef 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):89–97CrossRef
4.
go back to reference 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):252–253CrossRef 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):252–253CrossRef
5.
go back to reference 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 136CrossRef 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 136CrossRef
Metadata
Title
Biallelic rare 17 bp deletion mutation (HBB:c.380_396 del TGCAGGCTGCCTATCAG) in a transfusion depended form of thalassemia
Authors
Poonam Tripathi
Sarita Agarwal
Anshul Gupta
Kausik Mandal
Publication date
01-11-2020
Publisher
Springer Berlin Heidelberg
Keyword
Thalassemia
Published in
Annals of Hematology / Issue 11/2020
Print ISSN: 0939-5555
Electronic ISSN: 1432-0584
DOI
https://doi.org/10.1007/s00277-020-04017-2

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