Biallelic rare 17 bp deletion mutation (HBB:c.380_396 del TGCAGGCTGCCTATCAG) in a transfusion depended form of thalassemia
Author:
Publisher
Springer Science and Business Media LLC
Subject
Hematology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s00277-020-04017-2.pdf
Reference5 articles.
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
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
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
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
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
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