Keywords
next-generation sequencing
spectrin-alpha
SPTA1 mutation
How to Cite
Abstract
Hereditary anemias constitute a group of hematologic disorders characterized by considerable clinical and genetic heterogeneity, which represents a barrier to achieve a definitive diagnosis and, consequently, timely initiation of treatment. We report the case of a pediatric patient with hemolytic anemia associated with a pathogenic variant in the SPTA1 gene, transfusion dependence, and subsequent iron overload, in whom splenectomy was performed with the aim of improving growth and developmental outcomes.
References
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