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Handling editor Mary Frances McMullin.
Contributors PS, RD and NM designed the study. MJ, RS and NS performed the next-generation sequencing and analysed the data. SC performed the Hb HPLC/electrophoresis. DB and AT were involved in the clinical management of the patient. NM wrote the manuscript and all the coauthors reviewed and approved the final version of the manuscript.
Funding PGIMER’s Medical Education and Research Cell vide sanction letter number 71/2-Edu-16/209 dated 10 January 2018.
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.