Comparison of the Unsaturated Iron-Binding Capacity with Transferrin Saturation as a Screening Test to Detect C282Y Homozygotes for Hemochromatosis in 101 168 Participants in the Hemochromatosis and Iron Overload Screening (HEIRS) Study
Bibliographic record
Abstract
The diagnosis of hemochromatosis was previously based on a combination of clinical and laboratory assessments that included history and physical examination, increased transferrin saturation (TS) and serum ferritin, liver biopsy, the amount of iron removed by phlebotomy, and pedigree studies identifying other family members with iron overload (1). Since the discovery of the hemochromatosis gene (HFE) in 1996 (2), most studies from referral centers have shown that >90% of typical hemochromatosis patients are homozygous for the C282Y mutation of the HFE gene (3). Before the availability of DNA-based testing, it was assumed that most hemochromatosis patients have increased TS. However, recent population screening studies incorporating HFE genotyping have now shown that many C282Y homozygotes will have a normal TS and may never develop clinical signs and symptoms related to iron overload (4)(5)(6)(7)(8). TS has been recommended in many studies as the most clinically useful screening test for hemochromatosis because it is widely available and may be increased even in young adults with a genetic predisposition to hemochromatosis. Another potential advantage over DNA-based testing as an initial screening test is that TS may detect many types of iron overload other than those associated with HFE mutations. In addition, screening for iron overload instead of performing DNA-based testing may reduce the risks of potential genetic discrimination that some authors suggest is associated with identification of a C282Y homozygote with normal serum iron tests (9)(10)(11). The TS is a 2-step assay in which serum iron is the numerator and the denominator is either total iron-binding capacity (TIBC), [serum iron + unsaturated iron-bonding capacity (UIBC)] or an adjusted serum transferrin. The UIBC is a 1-step automated colorimetric assay that has been reported to have similar or better operating characteristics than TS for …
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.002 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.000 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.001 |
| Insufficient payload (model declined to judge) | 0.000 | 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 teacher head, 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".