Case Report: 2 Hereditary Spherocytosis Cases Featuring Liver Damage Related to Ank1 Mutations

Abstract

Lianhu Yu, Dan Li, Yongmei Xiao, Yizhong Wang, Ting Zhang, Hui Hu

Abstract Background: ANK1 mutations are usually related to hereditary spherocytosis [HS]. Reports of HS patients with liver failure are limited. Here we report two liver damage cases with ANK1 mutations. Based on liver manifestations and ANK1 gene mutations in these two patients, we suggest liver damage is related to ANK1, hoping it can expand the phenotypic spectrum.

Case Description: In both 2 patients, recurrent jaundice was the main symptom. Before and during hospitalization, hepatomegaly and abnormal liver functions were found. Genetic tests confirmed de novo heterozygous mutations in ANK1 gene. Liver biopsy of one child indicated iron accumulation. Based on these clinical performances, these two patients were diagnosed with liver failure and hereditary spherocytosis. Conservative treatment can improve the condition of one patient while the other patient responded poorly and liver transplant was conducted.

Conclusions: We believe liver damage is a new manifestation of ANK1 mutations. ANK1 mutations may decrease the level of hepcidin, which may cause iron overload and then ferroptosis, resulting in liver damage.

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