Hb Kalavasos [HBA2: c.275T > A; p.Leu92His]: a Novel α Chain Hemoglobin Variant.
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 A1ctesting 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.
a Department of Haematology , Cambridge University Hospital , Cambridgeshire , Cambridge , UK.
Mai
M
Kelany
b Department of Biochemistry , The Pathology Partnership Hinchingbrooke Hospital, Huntingdon , Cambridgeshire , UK.
John S
JS
Pickersgill
c East Anglian Medical Genetics Service, Molecular Genetics, Cambridge University Hospital , Cambridgeshire , Cambridge , UK.
Namir
N
Al Hasso
d Department of Chemical Pathology , Hinchingbrooke Hospital , Huntingdon , Cambridgeshire , UK.
Adie
A
Viljoen
e Tosoh Bioscience Europe , Tessenderloo , Belgium.
Nancy
N
van Bijlen
a Department of Haematology , Cambridge University Hospital , Cambridgeshire , Cambridge , UK.
Martin W
MW
Besser
D000368:Aged; D019943:Amino Acid Substitution; D002851:Chromatography, High Pressure Liquid; D003062:Codon; D005260:Female; D006442:Glycated Hemoglobin / Q000032:analysis; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D055542:alpha-Globins / Q000235:genetics*
D003062:Codon; D006442:Glycated Hemoglobin; D006455:Hemoglobins, Abnormal; D055542:alpha-Globins; C000614736:hemoglobin Kalavasos
Hb A1c; Hb Kalavasos; capillary zone electrophoresis; hemoglobin (Hb) variant; high performance liquid chromatography; α Hemoglobin chain