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Hb Kalavasos [HBA2: c.275T > A; p.Leu92His]: a Novel α Chain Hemoglobin Variant |
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| Authors: | Mai Kelany John S Pickersgill Namir Al Hasso Adie Viljoen Nancy van Bijlen |
| Institution: | 1. Department of Haematology, Cambridge University Hospital, Cambridgeshire, Cambridge, UK;2. Department of Biochemistry, The Pathology Partnership Hinchingbrooke Hospital, Huntingdon, Cambridgeshire, UK;3. East Anglian Medical Genetics Service, Molecular Genetics, Cambridge University Hospital, Cambridgeshire, Cambridge, UK;4. Department of Chemical Pathology, Hinchingbrooke Hospital, Huntingdon, Cambridgeshire, UK;5. Tosoh Bioscience Europe, Tessenderloo, Belgium |
| 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. |
| Keywords: | α Hemoglobin chain capillary zone electrophoresis hemoglobin (Hb) variant Hb A1c Hb Kalavasos high performance liquid chromatography |