{"title":"Diagnosis and Treatment of HFE<sup>C282Y</sup>-Linked Hemochromatosis.","authors":"Paul C Adams","doi":"10.1007/978-3-031-92033-2_9","DOIUrl":null,"url":null,"abstract":"<p><p>Genetic variants for hemochromatosis have been identified in human fossils that are over 4000 years old in Northern Ireland. Iron overload can lead to life-threatening complications, including liver fibrosis, cirrhosis, and hepatocellular carcinoma. In this review, the emphasis is on developments in the diagnosis and treatment of C282Y-linked hemochromatosis. There is a need for earlier diagnosis leading to earlier treatment to prevent morbidity and mortality.</p>","PeriodicalId":7270,"journal":{"name":"Advances in experimental medicine and biology","volume":"1480 ","pages":"119-130"},"PeriodicalIF":0.0000,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Advances in experimental medicine and biology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/978-3-031-92033-2_9","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"Biochemistry, Genetics and Molecular Biology","Score":null,"Total":0}
引用次数: 0
Abstract
Genetic variants for hemochromatosis have been identified in human fossils that are over 4000 years old in Northern Ireland. Iron overload can lead to life-threatening complications, including liver fibrosis, cirrhosis, and hepatocellular carcinoma. In this review, the emphasis is on developments in the diagnosis and treatment of C282Y-linked hemochromatosis. There is a need for earlier diagnosis leading to earlier treatment to prevent morbidity and mortality.
期刊介绍:
Advances in Experimental Medicine and Biology provides a platform for scientific contributions in the main disciplines of the biomedicine and the life sciences. This series publishes thematic volumes on contemporary research in the areas of microbiology, immunology, neurosciences, biochemistry, biomedical engineering, genetics, physiology, and cancer research. Covering emerging topics and techniques in basic and clinical science, it brings together clinicians and researchers from various fields.