1.
Hemoglobin
; 40(5): 345-348, 2016 Sep.
Article
in English
| MEDLINE
| ID: mdl-27624082
ABSTRACT
We present a case of a novel pathogenic variant, Hb Kalavasos [α91(FG3)LeuâHis (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.