Objective To investigate the expression of hepcidin mRNA in liver tissues of hereditary hemochromatosis type Ⅳ and explore its clinical significance and possible pathogenesis.Methods The family tree of one case of the proband had been studied by inquiring genetically, history collection, physical examination, lab examination (such as the blood routine, liver of function, serum iron, ferritin test and fasting blood-glucose) as well as the MRI check of the material organs, examination of hepatic pathology and staining by Prussian blue, the expression of hepcidin mRNA was detected in liver tissue by qRT-PCR, and also the gene related to mutation genes of hemochromatosis of the peripheral venous blood was screened.Results 7 cases of 15 family tree members had been checked as that there is visceral organs iron deposit differently, 2 cases of 3 patients been having liver tissue biopsy had been detected iron deposit in liver tissue by staining with Prussian blue.The expression of liver hepcidin mRNA of the 3 patients indicated moving-up by qRT-PCR.A point mutation on one base of the sixth extron of SLC40A1 of 2q32 had been detected by gene screening of the peripheral venous blood, i.e.the base of T173C.Conclusions 1.The family tree members are suffering the hereditary hemochromatosis type Ⅳ, and the hereditary character is autosome dominant hereditary, the point mutation is on the sixth extron of SLC40A1, but this point of mutation is different from those reports published internationally, therefore this gene mutation may be considered as the new type mutation;2.The expression of liver hepcidin mRNA of the 3 cases of the family tree members is indicated moving-up, so they occured hepcidin resistance that unable to respond to hepcidin show iron overload.
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