Novel mutation in SPTA 1 gene associated with severe hemolytic anemia

Abstract

Hereditary spherocytosis (HS), hereditary elliptocytosis (HE), and hereditary pyropoikilocytosis (HPP) are caused by mutations in five genes ANK1, SLC4A1, SPTA1, SPTB and EPB4 which encode for the erythrocyte cytoskeletal proteins, ankyrin, band 3, α-spectrin, β-spectrin and protein 4.2, respectively.1 These mutations and the resultant defective proteins lead to loss of red cell membrane surface area and reduced red cell deformity.2 Approximately 25% of patients will not have a clear family history.3 These autosomal recessive or de novo cases of severe hemolytic anemia pose a diagnostic challenge. We report a pediatric case of hemolytic anemia without a family history, where molecular diagnostics provided a definitive diagnosis of a red cell membrane disorder. The results of the molecular diagnostics demonstrated a complex set of mutations, including a novel mutation in the SPTA1 gene, which assisted in counseling his parents that childhood immunizations and splenectomy would be the appropriate treatment.