Case report reveals high transfusion needs in a girl with homozygous alpha thalassemia, indicating the importance of molecular diagnosis.
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 homozygous Hb Agrinio.
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Moreno‐Carbonell et al. (2025) studied this question.
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