Compound Heterozygous C282Y/H63D Mutation in Hemochromatosis: A Case Report  

作　　者：Zazour Abdelkrim Wafaa Khannoussi Amine El Mekkaoui Ghizlane Kharrasse Zahi Ismaili Zazour Abdelkrim;Wafaa Khannoussi;Amine El Mekkaoui;Ghizlane Kharrasse;Zahi Ismaili(Hepato-Gastro-Enterology Unit, Mohammed VI University Hospital Oujda, Oujda, Morocco)

机构地区：[1]Hepato-Gastro-Enterology Unit, Mohammed VI University Hospital Oujda, Oujda, Morocco

出　　处：《Open Journal of Clinical Diagnostics》2016年第3期30-35,共6页临床诊断学期刊（英文）

摘　　要：Hereditary hemochromatosis is a condition characterized by iron overload, which is both treatable and preventable. It’s mainly related to hepcidin deficiency related to mutations in genes involved in hepcidin regulation. Iron overload increases the risk of disease such as liver cirrhosis, heart disease and diabetes. Two HFE genotypes have been commonly described in cases of iron overload, C282Y homozygosity and C282Y/H63D compound heterozygoty. The diagnosis of this rare disease now can be explored by biological and imaging tools. We report a case of compound heterozygous C282Y/H63D discovered by family screening for elevated serum ferritin.Hereditary hemochromatosis is a condition characterized by iron overload, which is both treatable and preventable. It’s mainly related to hepcidin deficiency related to mutations in genes involved in hepcidin regulation. Iron overload increases the risk of disease such as liver cirrhosis, heart disease and diabetes. Two HFE genotypes have been commonly described in cases of iron overload, C282Y homozygosity and C282Y/H63D compound heterozygoty. The diagnosis of this rare disease now can be explored by biological and imaging tools. We report a case of compound heterozygous C282Y/H63D discovered by family screening for elevated serum ferritin.

关 键 词：Iron Overload Compound Heterozygoty PHLEBOTOMY 

分 类 号：R73[医药卫生—肿瘤]