SPTA1 and hereditary elliptocytosis: So a WES study was sent for confirmation of the HE, and the result came back positive for a specific variant in the SPTA1 gene denoted as c.779T>C p.(Leu260pro). This variant is a homozygous pathogenic variant in the SPTA1 gene, and the results were consistent with an autosomal recessive SPTA1-related disorder.