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Abstract
We present a case of a novel pathogenic variant, Hb Kalavasos [α91(FG3)Leu→His (α2); HBA2: c.275T > A; p.Leu92His (NM_000517.4)]; this codon was previously numbered 91 on the α2-globin gene that was discovered following routine Hb A1c testing on a 65-year-old female of Cypriot origin. The band, seen by high performance liquid chromatography (HPLC) but not capillary zone electrophoresis (CZE), was confirmed as a hitherto undescribed a chain variant, that we have named Hb Kalavasos for the Cypriot village of family origin of the proband.
Disclosure statement
The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article. Martin W. Besser received a fee from Glaxo Smith Kline for chairing a meeting. John S. Pickersgill and Adie Viljoen received a travel grant to attend Euromedlab Paris 2015. Nancy Van Bijlen is an employee of Tosoh Biosciences Europe. The findings of this article were in part presented at the Euromedlab Paris 2015.