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Scoperta una nuova emoglobina variante al Laboratorio Unico dell’Ausl Romagna

Al Laboratorio Unico dell’Ausl della Romagna è stata individuata una nuova emoglobina variante, che è stata chiamata “Emoglobina Romagna” in omaggio al territorio dove è stata identificata. La scoperta è avvenuta all’interno del Settore di Ematologia dell’Unità Operativa di Patologia Clinica, diretta pro tempore dal professor Vittorio Sambri,

durante un’analisi di emoglobina glicata, un esame di routine utilizzato per la diagnosi o il monitoraggio del diabete. In questa analisi è stata impiegata una tecnologia che consente anche il riconoscimento di eventuali emoglobine varianti di cui il paziente potrebbe essere portatore. La nuova emoglobina si distingue per essere “clinicamente silente”, ossia non associata né a sintomi né a modifiche dell’emocromo. La sua scoperta è particolarmente significativa, poiché, come accade per altre emoglobine silenti, la sua combinazione con altre anomalie emoglobiniche potrebbe avere implicazioni cliniche, come spiega il dottor Marco Rosetti: “Le emoglobinopatie sono difetti genetici dell’emoglobina, una proteina contenuta nei globuli rossi che trasporta l’ossigeno in tutto il corpo. Questi difetti possono causare una ridotta produzione di emoglobina, conosciuta come talassemia, oppure la generazione di molecole mutate chiamate appunto emoglobine varianti. Ad oggi, sono state identificate circa 1400 varianti, la più nota è l’emoglobina S, che può causare l’anemia falciforme; tuttavia la maggior parte delle emoglobine varianti risulta clinicamente silente. È noto però, – precisa il dottor Rosetti – che alcune emoglobine varianti silenti possano dar luogo a manifestazioni cliniche in caso di associazione con altre varianti emoglobiniche o stati talassemici. Per queste ragioni, è importante la valutazione delle emoglobinopatie nello screening prenatale, per identificare mutazioni che potrebbero essere silenti nei genitori ma generare possibili problematiche nella prole. La nuova variante identificata, l’emoglobina Romagna, è caratterizzata dalla presenza di una mutazione nella catena alfa della molecola ed è stata inserita all’interno del database internazionale “HbVar: a Database of Human Hemoglobin Variants and Thalassemia Mutations”, che raccoglie e rende riconoscibili alla comunità scientifica tutte le nuove emoglobine varianti identificate a livello globale.” In questi anni, il Settore di Ematologia, guidato dal dottor Giovanni Poletti, si è contraddistinto anche per altre importanti scoperte scientifiche. Nel 2015, per la prima volta a livello internazionale, l’équipe romagnola ha descritto come alcune emoglobine varianti (Hb Leiden o Hb G Ferrara) possano dare specifiche interferenze sull’analisi dell’emocromo, precedentemente sconosciute. La scoperta di questo fenomeno è stata d’aiuto ad altri laboratori nell’individuare casi simili dipendenti da altre emoglobine varianti. Nel 2024, il settore ha contribuito alla segnalazione di una nuova variante genetica talassemica, causata da una neoplasia ematologica. Questo raro disturbo talassemico è particolarmente interessante perché è acquisito con la malattia ematologica, a differenza della maggior parte delle emoglobinopatie, che sono congenite e trasmissibili alla prole.

Ausl Romagna

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