English 
Italian CASI CLINICI – Case Reports
Volume:
Biochimica Clinica 2018; 42(4) e56-e58
Pubblicato on-line:
August 1, 2018
DOI:
10.19186/BC_2018.048
Individuazione e identificazione di una nuova variante emoglobinica durante la quantificazione dell’emoglobina glicata
AUTORI
1Laboratorio di Biochimica Clinica, Azienda Ospedaliera-Universitaria Maggiore della Carità, Novara
2Dipartimento di Patologia Clinica-Medicina di Laboratorio, Treviso
3Laboratorio di Genetica Umana, Ospedali Galliera, Genova
ABSTRACT
Incidental detection of a new hemoglobin beta variant performing HbA1c measurement
Incidental detection of a new hemoglobin beta variant performing HbA1c measurement. Hemoglobin α and β chain variants can be incidentally detected during the glycated hemoglobin (HbA1c) determination. A 58-year-old female was investigated for HbA1c with Tera 3 Capillarys system (CE, Sebia). Quantification of HbA1c was invalidated by the presence of a double peak in the HbA0 zone. Standard high performance liquid chromatography (HPLC), performed with VARIANT IITM Analyzer (Biorad), did not separate the variant from Hb A0. β-globin gene sequencing showed a heterozygous variation of nucleotide sequence HBB: c.376C>A; beta 125 (H3) Pro>Thr. The new variant, called Hb-Novara, was found also in the daughter of the proband, associated with an alpha-talassemic trait. The hemoglobin stability tests of both subjects were normal. A combination of different technologies (such as HPLC and CE) can be useful in the detection of new hemoglobin variants. Although Hb-Novara seems to be asymptomatic, it could produce relevant hematological phenotypes when associated with α or β chain defects