Hereditary Elliptocytosis: A Novel Mutation in the SPTA1 Gene and Diagnosis after a Stroke in Paediatric Patients. A Two‐case Report

Hereditary erythrocyte membrane disorders are caused by mutations in genes encoding transmembrane or cytoskeletal proteins of red blood cells (RBC). These conditions contribute to decrease red cell deformability and survival. 1 RBC membrane defects encompass a heterogeneous group of haemolytic anaemias, like hereditary elliptocytosis (HE). HE is characterised by the presence of elliptocytes on peripheral blood smear (PBS). This is due to mutation in the EPB41, SPTA1 and SPTB genes that encode the protein of the junctional complex: α - spectrin, β -spectrin, protein 4.1 and band 3. 2 Clinical manifestations of HE range from asymptomatic carriers to severe anaemia. 3 Given most patients are asymptomatic or have mild anaemia, it is underdiagnosed. DiagnosisisestablishedbyobservingthemorphologyofRBCsinaPBS andconductinganosmoticgradientektacytometry,althoughprognosis cannot be predicted this way. However, new next-generation sequenc-ingallowsustolearnmoreaboutthediseasegenotypeandphenotype. ThispaperpresentsthegeneticdiagnosisoftwocasesofHE.Case1 is a 5-year-old patient whose father had chronic anaemia. The patient required hospitalisation at 2 months of age due to a haemolytic crisis (peak total bilirubin [TB] 14.05 mg/dL; lactate dehydrogenase [LDH] 557 UI/L; minimum haemoglobin 6.8 g/dL at onset; reticulocytes 9.5%; haptoglobin