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Article

Unlocking Rare Diagnoses: The Essential Role of Molecular Techniques in Hemoglobin Agrinio. A Case Report.

European journal of haematology - 1 Sept 2026

Moreno Carbonell Marta, Martínez Ana Gómez, Mariño Sergio Felipe Pinzón, Morín Marina García, Vigil Carmen Rodríguez, Ropero Paloma, Cela Elena, Montañés Ángeles, Recasens Valle

Abstract excerpt

Alpha thalassemia is characterized by the reduced or absent synthesis of alpha globin chains, most commonly due to deletional mutations. Hb Agrinio [α29(B10) Leu→Pro, CTG>CCG (α2)] is an infrequent nondeletional alpha thalassemia (α-Thal) that has been described in less than 20 individuals in the world. We presented the case of a girl with anemia since birth and high transfusion needs, with a recent diagnosis of...

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Identifiers

PMID: 41251196
DOI: 10.1111/ejh.70050
PMCID: PMC13460486

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