The Prevalence and Incidence of Iron Overload in C282Y Homozygotes
Bibliographic record
Abstract
Purpose: Hereditary Hemochromatosis (HH) is a genetic disease of unregulated iron absorption via the GI tract that may result in inappropriate deposition and damage to various organs, including the liver and heart. The most common mutation implicated in HH is homozygosity for a Cysteine-Tyrosine substitution at position 282 on chromosome 6 (C282Y). It has been recognized that this genotype is incompletely penetrant, so that the risk of iron overload in C282Y homozygotes is not clear. The purpose of this study was to determine the risk of iron overload in patients homozygous for the C282Y mutation. Methods: This was a retrospective study of all persons in NL who had tested positive for C282Y homozygosity since test inception in 1999 to January of 2009. The study received full approval from the local ethics board. Electronic medical records were reviewed to obtain indices of iron overload (ferritin and transferrin saturation) and liver function tests, which were then recorded annually for as long as such data were available for each patient. Age, gender, and any available clinical data (such as liver biopsy, CT scan results, and need for phlebotomy) were also recorded. Patients were classified at each time point as having iron overload-related disease, iron overload, provisional iron overload, or no iron overload using the same definitions proposed by the HealthIron investigators. Microsoft Excel® 2010 was used to analyze the results. Results: A total of 360 patients tested positive for the C282Y mutation. Thus far, the records of 92 C282Y homozygotes have been reviewed. Nineteen cases had insufficient data available and were excluded from the analysis. The remaining 73 patients had mean follow-up of 6.7 years. Of these, 13 (18%) fit the criteria for documented iron overload, 38 (52%) were classified as provisional iron overload, and 22 (30%) had no evidence of iron overload. Eleven of the 13 patients (85%) with documented iron overload were were male, and the average age at genotyping was 49.4 years. No patients in the provisional or no evidence categories at baseline developed documented iron overload by the end of the study period. Conclusion: In this study, 18% of C282Y homozygotes satisfied the criteria for documented iron overload at the time of genotyping. No C282Y homozygotes without iron overload at diagnosis developed it during the study period.
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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 | 0.001 | 0.002 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 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".