Early detection of genetic hemochromatosis: should all young adults be offered the genetic test?
Genetic hemochromatosis (GH) is a late-onset, autosomal recessive disorder. The majority of those at risk from iron overload and its clinical consequences may be detected by a simple genetic test. Furthermore, treatment by phlebotomy, if instituted early, removes excess iron and prevents the complications of iron overload which include arthralgia, diabetes, and cirrhosis of the liver. GH seems to be an obvious candidate for inclusion in national screening programs. However, important questions remain concerning the proportion of individuals with the high-risk genotype who eventually show clinical manifestations of iron overload and the significance of heterozygosity for haemochromatosis in terms of morbidity. Until these questions are resolved, the introduction of widespread genetic screening cannot be justified.
Worwood
M
M
Department of Haematology, University of Wales College of Medicine, Cardiff, UK. Worwood@cardiff.ac.uk
D000293:Adolescent; D000328:Adult; D005820:Genetic Testing / Q000706:statistics & numerical data*; D006680:HLA Antigens / Q000235:genetics; D006432:Hemochromatosis / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006720:Homozygote; D006801:Humans; D007501:Iron / Q000378:metabolism; D008565:Membrane Proteins; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D011159:Population Surveillance; D015995:Prevalence; D006113:United Kingdom / Q000453:epidemiology
C103673:HFE protein, human; D006680:HLA Antigens; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D007501:Iron