The Incidence and Prevalence of Iron Overload in Homozygous C282Y Mutation in Newfoundland and Labrador
Bibliographic record
Abstract
Purpose: This study aims to assess the proportion of iron overload and ironoverload-related disease and determine the incidence of progressive iron overload in homozygous C282Y mutation in Newfoundland and Labrador. Methods: We conducted a retrospective study of all individuals (n = 360) diagnosed with homozygous C282Y mutation from 1999-2009 in Newfoundland and Labrador. From electronic health records, we documented clinical data, biochemical data, and treatment status with phlebotomy for each patient. Biochemical data included serum ferritin, transferrin saturation, iron level, aspartate aminotransferase (AST), alanine aminotransferase (ALT), total bilirubin, albumin, and International Normalized Ratio (INR). We started recording the data at baseline and continued each year if available until March, 2012. Iron overload and iron overload-related diseases of each patient were classified as per the definitions given in the previously published HealthIron study to determine stage of disease progression. SPSS version 19.0 software was used for descriptive and inferential statistics. Results: At genotyping, 25 cases (8%) had iron overload related disease, 39 cases (12%) had documented iron overload, 143 cases (45%) had provisional iron overload, and 111 cases (35%) had no evidence of iron overload. At end of follow-up (mean 6.87 ± 4.27 years), 43 cases (14%) of the cohort had iron overload and 39 cases (12%) had iron-overload-related disease. Of those 39 cases, 8% were women and 15.3% were men. A total of 21 cases (7%) showed progression to documented iron overload and iron overload related disease from provisional and no evidence of iron overload at baseline during follow-up. Of the 21 cases, 16 cases (76%) were male, 5 cases (24%) were female and 19 cases (90%) had ferritin levels of more than a 1000μg/L. A small subset of 16 cases did not undergo phlebotomy and showed no progression of iron overload categories at the end of follow-up. Conclusion: From our cohort of homozygous C282Y, we found 15.3% of men and 8% of women who showed clinically significant iron overload. This finding was mostly consistent with previous studies. However, our cohort did reveal a larger proportion of females who had clinically significant iron overload as compared to the HealthIron study. This suggests that other inherent factors such as genetic factors or environmental factors may explain the variability in disease penetrance.
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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 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.000 | 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".