作者: Dilum Ekanayake , Clinton Roddick , Lawrie W. Powell
DOI: 10.1007/S12072-015-9608-2
关键词: Hereditary hemochromatosis 、 Hfe gene 、 Cascade screening 、 Lethargy 、 Pathology 、 Gene mutation 、 Disease 、 Medicine 、 Genetic testing 、 Bioinformatics 、 Hemochromatosis
摘要: This review focuses on iron metabolism, the genetics of hemochromatosis, current treatment protocols and various screening methods. Even though most common form hereditary C282Y gene mutations in HFE gene, has been extensively studied, novel both non-HFE genes have implicated this disease. These important implications for Asia-Pacific region. In overload, deposition body tissues leads to toxic damage. Patients commonly present with non-specific symptoms malaise lethargy. Biochemical, imaging genetic testing can be carried out confirm diagnosis. Venesection forms mainstay at cascade affected families is recommended over population-level screening.