My son is compound heterozygous C282Y/H63D and had a high ferritin level (772) at age 22, and my husband is homozygous H63D and had a ferritin level of 554 at age 50. Diagnosis of hemochromatosis is by phenotypic evaluation of iron overload using indirect serum markers and, ultimately, in select individuals, by liver biopsy, and by genotypic evaluation using mutation analysis of the HFE gene in blood samples. High levels of ferritin can indicate an iron storage disorder, such as hemochromatosis, or a chronic disease process. A liver biopsy is recommended in patients with elevations of both serum transferrin saturation and serum ferritin to evaluate the extent of iron overload and hepatic damage. A volume in the Handbook of Clinical Neurology series, which has an unparalleled reputation as the world's most comprehensive source of information in neurology International list of contributors including the leading workers in the field ... This cut-off value indicates the need for further clinical and laboratory evaluation to establish the diagnosis and underlying cause of the ferritin levels. Introduction. Your ferritin is very much lower than that. Certain key concepts (Box 1) are common to all three conditions and need to be emphasized at the outset. Moreover, the prevalence of elevated serum ferritin levels among younger C282Y homozygotes, 25 to 29 years of age, was the same in the large Hemochromatosis and Iron Overload Screening (HEIRS) study, as has been found among older homozygotes in multiple other studies: 83% of men had levels more than or equal to 300 μg/L and 40% of women had levels more than … However, this idea is based on a widespread misconception about the natural history of the disease. Nevertheless, evidence points to a majority of genetically predisposed individuals—that is, C282Y homozygotes—particularly males exhibiting elevated iron markers. Olynyk JK, Cullen DJ, Aquilia S, et al: A population study of the clinical expression of the hemochromatosis gene. We do not have accurate predictors of how many of these will go on to develop tissue iron overload, and most specialists currently favor prophylactic phlebotomy in these cases. Although a formal cost-effectiveness analysis of using this serum ferritin cut-off has not yet been conducted, we base this assertion on the low cost of the test and the low yield of “false positives” when detection of a clinically important condition is considered as a positive. A rate in excess of 1.9 μmol/g/yr is found in most HH homozygotes. However, in those who do, there appears to be a pathophysiologic predisposition to increased inappropriate absorption of dietary iron, which leads to the progressive development of life-threatening complications of cirrhosis, hepatocellular cancer, diabetes, and heart disease. A liver biopsy will show that the patient does not have iron overload. Subsequently, this evolves to a stage of iron overload without evident disease (at approximately 20 to 40 years of age, 5 to 20 g parenchymal iron storage). This will remove approximately 250 mg of iron for each unit of phlebotomy, depending on the starting hematocrit value. High levels of ferritin can be indicative of an iron storage disorder such as hemochromatosis.
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