Diagnosis of hemochromatosis in young subjects: Predictive accuracy of biochemical screening tests

摘要: The reliability of serum iron, transferrin saturation, and ferritin in the detection early iron overload hemochromatosis was determined 120 young (less than 35 yr old) relatives whose genetic susceptibility for disease by HLA typing families. Serum saturation demonstrated high levels sensitivity specificity, whereas concentration an unreliable test hemochromatosis. In homozygotes there excellent correlation between mobilized body (r = 0.92), 1 microgram/L corresponding to approximately 7.5 mg stores. For a given age, values were higher compared with heterozygotes or homozygous-normal subjects increased 65 micrograms/L X yr, reflecting progressive accumulation homozygotes. All either hepatic fibrosis cirrhosis had concentrations greater 700 micrograms/L. We conclude that combination is reliable screening regimen predicting level stores subjects.