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Ultra-rare Hb Regina (HBB:c.289C>G) with coinherited β-thalassaemia trait: solving the puzzle for extreme erythrocytosis

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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.