TfR2-related Hereditary Hemochromatosis: Case Report And Literature Review

Objective:Hereditary Hemochromatosis(HH)is a rare genetic metabolic disease related to iron metabolism disorders.In this study,a case analysis of a case of hemochromatosis with transferrin receptor 2(Transferrin Receptor 2,TfR2)gene mutations and their family members was conducted,and a review of domestic and foreign literature was conducted to improve the understanding of TfR2 gene mutation-related hemochromatosis And the level of diagnosis and treatment.Methods:Taking a patient with blackened skin and liver cirrhosis complicated with diabetes as the object of study,the patient was diagnosed as TFR2 gene mutation related hemochromatosis by detailed inquiry of medical history,comprehensive physical examination,routine blood cell,liver biochemistry,hepatitis virological index and imaging examination,exclusion of common diseases,further liver histological examination and high-throughput sequencing of hemochromatosis related genes.Then traced back to the incidence of healthy members of the family,and gene detection,combined with the literature of TFR2 gene mutation-related hemochromatosis reported at home and abroad and the clinical data of patients were summarized retrospectively to analyze its characteristics and deepen the understanding and mastery of rare diseases.Results:In this study,the proband had abnormal transaminase,serum iron(serumiron,SI)51.8 μ mol / L,ferritin(serumferritin,SF)8548.9ng/m L,transferrin saturation(transferrinsaturation,TS)116.77%.Liver histology suggested nodular cirrhosis,diffuse intrahepatic iron deposition(severe IV grade),and preliminary consideration of hemochromatosis.The results of high-throughput gene detection showed that two heterozygous mutations were detected in TFR2 gene: nucleotide G mutation in exon 101288 to A,resulting in the transformation of genetic codon 430 from glycine to arginine(c.1288 G > A,p.G430R).The T mutation of nucleotide 960 in exon 7 caused the genetic codon 320 to change from tyrosine to stop codon(c.960 T > A,p.Y320X),HFE,HJV,HAMP and SLC40A1 genes were not abnormal.Tracing back to the healthy members of their pedigree,it was found that a sister of the proband had a TFR2 gene mutation,but there was no clinical manifestation of iron overload.For ethical reasons,the mutation site was not informed,and no related mutation was found in the detection of other genes.Conclusion:1.The mutation site of TFR2T960 A gene may be a new pathogenic mutation site of hereditary hemochromatosis in China.2.Gene detection is an important basis for accurate diagnosis of hereditary hemochromatosis.Today,with the high development of science and technology,it is worth paying attention to.3.Molecular genetic cascade screening was carried out on the families and relatives of the proband,early diagnosis,evaluation of high-risk groups,timely treatment to avoid serious complications in the progression of the disease.