Report on 2 Liver Damage Cases of Unknown Reason with ANK1 Mutations

Abstract

Background: ANK1 mutations are usually related to hereditary spherocytosis. Few studies show direct relationships between ANK1 mutations and liver damage. Recent researches revealed that ANK1 mutations may downregulate the expression of hepcidin, a key hepatic hormone important to iron homeostasis. Hepcidin deficiency can induce iron overload that do harm to liver cells and cause ferroptosis.Case Presentation: In both cases, yellowing of skin and hepatomegaly were found. Lab results showed increased alanine aminotransferase (ALT) and aspartate aminotransferases (AST). Genetic tests confirmed de novo heterozygous mutations in ANK1 gene. Liver biopsy of one child indicated mild liver damage. Prussian blue staining revealed iron accumulation. Conclusions: Here we report 2 cases featuring ANK1 mutations with liver damage of unidentified causes. We suspect that ANK1 mutation is related to liver damage through decreasing hepcidin, which may cause iron overload and then ferroptosis.