Iron overload and cirrhosis in referred <i>HFE</i> p.C282Y homozygotes with normal transferrin saturation and elevated serum ferritin
Bibliographic record
Abstract
Background: Elevated transferrin saturation (TS) is an imperfect test to identify adults with high-iron gene ( HFE) p.C282Y homozygosity or elevated hepatic iron concentration. Methods: We analyzed observations of non-screening, previously untreated p.C282Y homozygotes who presented with both normal TS (<50% men, <45% women) and elevated serum ferritin (SF; men, >300 µg/L; women, >200 µg/L). Iron overload was defined as hepatocyte iron grade 3 or 4, liver iron >35 µmol/g dry weight, or iron removed by phlebotomy ≥3 g. Cirrhosis was defined as regenerating nodules of hepatocytes surrounded by bands of fibrous connective tissue. Results: Among 917 referred p.C282Y homozygotes, 58 (33 men, 25 women) had normal TS and elevated SF (6.3% [95% CI 4.9% to 8.1%]). Of 58 patients, 14 (24.1%) underwent liver biopsy; all 14 had hepatocyte iron grade 3 or 4. Fatty infiltration was reported in 6 of 14 liver biopsies (42.9%). Liver iron was >35 µmol/g dry weight in 7 of 8 patients tested (87.5%). Iron removed by phlebotomy was ≥3 g in 75.0% (15/20) of men and 62.5% (5/8) of women. Of 58 patients, 3 (5.2%) had iron overload and cirrhosis; each also had a proven or possible non-iron liver condition that may have acted in synergy with liver iron to increase cirrhosis risk. Conclusions: Iron overload is common in non-screening, previously untreated HFE p.C282Y homozygotes with normal TS and elevated SF. Among our sample, 5.2% had cirrhosis. Clinicians should not assume that patients with normal TS and elevated SF do not have HFE p.C282Y homozygosity, iron overload, or cirrhosis.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.002 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.000 |
| Insufficient payload (model declined to judge) | 0.002 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".