• Wei Zhang, Tingxia Lv, Jian Huang, and Xiaojuan Ou.
• Liver Research Center, Beijing Key Laboratory of Translational Medicine in Liver Cirrhosis, Beijing Friendship Hospital, Capital Medical University National Clinical Research Center for Digestive Diseases Experimental Center, Beijing Friendship Hospital, Capital Medical University; Beijing, China.
• Medicine (Baltimore). 2017 Sep 1; 96 (38): e8064e8064.

RationaleHereditary hemochromatosis can be divided into HFE- and non-HFE-related based on genetic mutations in different genes. HFE-related hemochromatosis is the most common inherited genetic disease in European populations but rare in Asia-pacific region. Recently, non-HFE-related hemochromatosis has been reported in patients from the Asian countries.Patient ConcernsWe report the case of a 48-year-old Chinese Han woman who presented with abnormal liver function, diabetes mellitus, hyperferritinemia, and high transferrin saturation, with severe iron overload in parenchymal cells, Kupffer cells, and periportal fibrosis on liver biopsy. No secondary factor for iron overload was identified.DiagnosesSanger sequencing was conducted for the screening of mutation in the hereditary hemochromatosis related genes. The functional effect of a splicing mutation, SLC40A1 IVS 3+10 del gtt, was assessed by reverse-polymerase chain reaction analysis for SLC40A1 mRNA level, and by immunohistochemistry analysis of liver biopsy for ferroportin expression and cellular localization.OutcomesA novel splicing mutation IVS 3+10 del gtt was identified in the SLC40A1 gene. Functional analysis showed that IVS 3+10 del gtt in the SLC40A1 gene lead to a substantial reduction in the basal levels of SLC40A1 mRNA and increased membrane localization of ferroportin. Finally, the patient was diagnosed as ferroportin disease (type 4B hemochromatosis).LessonsThe present study is the first report to identify a classical splicing mutation in the SLC40A1 gene in type 4B hemochromatosis, and provide further evidence of the prevalence of type 4 hereditary hemochromatosis in Asian countries.

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