EPB42 and histiocytic sarcoma: HS is characterized by spherocytic erythrocytes, splenomegaly, hyperbilirubinemia, thrombosis, leukocytosis and cardiac hypertrophy [19] and is predominantly caused by mutations in one of the erythroid membrane cytoskeleton components including ANK1, Band 3 (SLC4A1), α-spectrin (SPNA), β-spectrin (SPNB), and protein 4.2 (EBP4.2) [12].