EPB41 and hereditary elliptocytosis: In two out of four HE, a nonsense variant in EPB41 (reference transcript ID: NM_001166005.2:c.2112G > A/p.Trp704Ter) [13] and a missense variant in SPTA1 NM_003126.4:c.452G > A/p.Gly151Asp) were identified.