Unlocking Rare Diagnoses: The Essential Role of Molecular Techniques in Hemoglobin Agrinio. A Case Report.
Marta Moreno Carbonell, Ana Gómez Martínez, Sergio Felipe Pinzón Mariño et al.
✦ AI-curated · Sources linked
Case in brief
A girl had anemia from birth and high transfusion needs. Evaluation led to a recent diagnosis of homozygous Hb Agrinio, a nondeletional alpha-thalassemia variant caused by an α2-globin substitution (α29(B10) Leu→Pro; CTG>CCG). The report highlights molecular techniques in establishing this diagnosis. The abstract does not describe further diagnostic findings or how the anemia or transfusion requirement resolved.
What made this case unusual
The case involved homozygous Hb Agrinio, an infrequently described nondeletional alpha-thalassemia variant; the abstract notes fewer than 20 individuals reported worldwide.
Diagnostic / clinical pearl
In a patient with anemia from birth and high transfusion needs, molecular techniques can help identify a nondeletional alpha-globin variant such as Hb Agrinio.