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Transferrin Saturation Screening for Hemochromatosis in a Primary Care Patient Population Genotypic and Clinical Observations



Transferrin Saturation Screening for Hemochromatosis in a Primary Care Patient Population Genotypic and Clinical Observations



Blood 100(11): Abstract No. 1736



The serum transferrin saturation (TS) level is the preferred initial screening test when a diagnosis of Hereditary Hemochromatosis (HHC) is being considered; however, the causes of elevated TS levels in primary care practice have not been systematically analyzed. We analyzed the causes of elevated TS values in a random sample of 4865 primary care patients. Patients with an initial TSgtoreq 45% were retested in a fasting state, and those with elevated values were evaluated for possible etiologies. Genomic DNA was analyzed for C282Y and H63D HFE mutations. 318/4865 patients had an initial TSgtoreq45% and 90 of these had a TSgtoreq45% when retested in a fasting state. 29 patients had both TS values gtoreq55%. 13/29 had a HHC associated HFE genotype (9 C282Y homozygous and 4 compound heterozygous). These two genotypes were significantly over-represented compared to the general population (p<0.01). The wildtype genotype was significantly under-represented (p<0.01) and the frequencies of the remaining HFE genotypes were not significantly different than the population at large. Nine of the 16 patients who lacked HHC associated genotypes were clinically evaluated. 2/9 had hepatitis C (one with concurrent alcohol use had cirrhosis), 1 had hepatitis B, 3 had alcohol use as a possible risk factor, and one had no known risk factors yet had 3.89 grams of iron mobilized by therapeutic phlebotomy and likely has non-HFE related iron overload. The other 7/16 patients were not available for detailed clinical evaluation, however, 4/7 had SF> 300nG/L and the other 3 had SF<300nG/L. Three C282Y homozygotes were not identified using this TS cut-point (55%); two women with TS values of 52 and 53% and one man with a TS of 29%. In summary, TS screening identified 9 of 12 C282Y homozygous patients and 4/55 compound heterozygotes in this population; all those with significant iron overload were successfully identified. Most of the other patients identified by TS screening had medical conditions other than HHC accounting for the TS elevation including alcohol abuse and/or hepatitis. One patient had non-HFE related iron overload. This data should be useful to clinicians who utilize TS screening in their practice.

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