Relation between HFE Mutations and Mild Iron-Overload Expression
The identification of the HFE gene involved in hemochromatosis allows genetic tests based on mutation analysis to be performed. However, discrepancies in the correlation between HFE genotypes and iron-loading status have arisen. We investigated 708 patients with various signs or symptoms suggesting a putative iron overload that, nevertheless, did not reach the current criteria for hemochromatosis diagnosis. Most of the patients (91.4%) included in our study displayed one of three classical iron marker values above the threshold defined for iron overloading. HFE mutation analysis allowed us to identify 45.7% of carrier chromosomes in the studied group of patients that showed higher frequencies of HFE mutations compared with controls. In addition, the frequencies of compound C282Y/H63D heterozygous, H63D/H63D homozygous, and C282Y heterozygous genotypes were higher than those in HH probands and controls; they accounted for 16, 5.6, and 22.5% of the patients, respectively. All genotypic groups had a significantly higher value of serum ferritin concentration compared to the normal value; only the C282Y homozygotes and compound heterozygotes with H63D had a transferrin saturation significantly higher than the normal value. On the whole the H63D homozygous and compound heterozygous patients constitute an intermediate phenotypic group between HH and controls. Some of them may reach the critical overloading defined for HH diagnosis along with a potential risk of developing complications, whereas others only show a partial phenotypic expression.
Author Keywords: HFE; mutation analysis; iron overloading; hemochromatosis
Would you believe that blood iron saturation tests were the subject of massive fraud cases settled in 1996, causing the tests to be dropped from “standard” panels. That single twist of fate kissed goodbye one of the best screening tools for hemochromatosis in the very same year that doctors discovered most hemochromatosis was genetic. Which was also the year that many clinics started to refuse blood donations from people who had lived in Europe (due to mad cow disease).
Guess who had lived in Europe? My partner and I. Guess who were big blood donors until 1996? My partner and I. And 1996 is when her health started to decline. Very slowly at first, but then accelerated by menopause (monthly blood loss due to periods tends to fend off the effects of hemochromatosis in women so they are often diagnosed later than men, but with more damage done).
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