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

Ann Hematol. 2020 Nov;99(11):2719-2722. doi: 10.1007/s00277-020-04017-2. Epub 2020 Apr 15.

Authors

Poonam Tripathi¹, Sarita Agarwal², Anshul Gupta³, Kausik Mandal¹

Affiliations

¹ Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Lucknow, 226014, India.
² Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Lucknow, 226014, India. saritasgpgi@gmail.com.
³ Department of Hematology, Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Lucknow, 226014, India.

PMID: 32296912
DOI: 10.1007/s00277-020-04017-2

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Base Sequence
Chromatography, High Pressure Liquid
Codon, Nonsense / genetics*
Female
Frameshift Mutation*
Homozygote
Humans
India
Infant
Pedigree
Sequence Deletion*
beta-Globins / genetics*
beta-Thalassemia / epidemiology
beta-Thalassemia / genetics*

Substances

Codon, Nonsense
beta-Globins