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Giuseppe Agosta

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Arianna Lucini Paioni
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BC: Articoli scritti da M. Marchiando

Individuazione e identificazione di una nuova variante emoglobinica durante la quantificazione dell’emoglobina glicata
Incidental detection of a new hemoglobin beta variant performing HbA1c measurement
<p>Incidental detection of a new hemoglobin beta variant performing HbA1c measurement. Hemoglobin &alpha; and &beta; 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. &beta;-globin gene sequencing showed a heterozygous variation of nucleotide sequence HBB: c.376C&gt;A; beta 125 (H3) Pro&gt;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 &alpha; or &beta; chain defects</p><p>&nbsp;</p>
Biochimica Clinica ; 42(4) e56-e58
Casi clinici - Case Report