Abstract: Objective To investigate the relationship between HJV E3D variation and clinical phenotype from 3 Chinese families with hereditary hemochromatosis (HH).Methods To exclude secondary causes of iron overload and clinically diagnose HH, medical history, iron studies, liver function test, magnetic resonance imaging of liver and liver biopsy were performed in 3 probands from the 3 families. Blood samples of the 3 probands and their families were collected for genomic DNA extraction, and then subjected for sequence analysis on mutations of common HH-related genes (HFE, HAMP, HJV, TFR2 and SLC40A1) was performed.Results Three probands of HH were manifested with obvious iron overload, and 2 members from 2 families also showed iron overload. Additionally, 2 probands carried other HH-related genes besides HJV E3D.Conclusion HJV E3D might be the hotspot mutation of Chinese patient with HH. Its combination with other HH-related mutations may be necessary for emergency of HH. Moreover, the prevalence of HH increases with advanced age in male.

Key words: Hemochromatosis, HJV gene, Phenotype, Family analysis