Genetic hemochromatosis: Detection, management, and population screening

Citation
Js. Dooley et Ap. Walker, Genetic hemochromatosis: Detection, management, and population screening, GENET TEST, 4(2), 2000, pp. 97-101
Citations number
28
Categorie Soggetti
Molecular Biology & Genetics
Journal title
GENETIC TESTING
ISSN journal
10906576 → ACNP
Volume
4
Issue
2
Year of publication
2000
Pages
97 - 101
Database
ISI
SICI code
1090-6576(200022)4:2<97:GHDMAP>2.0.ZU;2-4
Abstract
Genetic hemochromatosis (GH) is an inherited disease that results in iron o verload, and, if untreated, causes irreversible organ damage. Knowledge and understanding of the early features of the condition, often nonspecific, a nd of the diagnostic route are necessary to detect iron overload and diagno se GH before irremedial damage has been done. Genetic testing now: plays an important role in diagnosis. Management of the patient with established GH centers: on venesection to return body iron levels to normal, treatment of the complications of GH, and family screening for GB, Population screening for GH, the ideal strategy to prevent any morbidity from: iron overload, h as not yet been accepted by public health professionals, largely because of the lack of data on the disease penetrance in genetically susceptible indi viduals.