Retrospective Review of Patients of Southeast Asian Descent with Persistent Hyperferritinemia Who Are Negative for Hereditary Hemochromatosis.
Bibliographic record
Abstract
Abstract Background and Methods. Isolated hyperferritinemia is a common clinical finding. However, known HFE mutations C282Y and H63D have not been well-described in the Asian population. As well, evaluation of hyperferritinemia in the Asian population is confounded by chronic hepatitis B infection. We performed a retrospective case review of 79 patients of Southeast Asian ethnicity referred to three subspecialists in a tertiary care teaching hospital from January 1997 until July 2006 for assessment of hyperferritinemia. A subset of patients may represent a novel syndrome of isolated hereditary hyperferritinemia. Results. 35 patients had identifiable secondary causes for their hyperferritinemia. 4 had clinical or biopsy proven iron overload consistent with hemochromatosis. 40 had isolated hyperferritinemia. Of the 35 patients with secondary causes, 26 had liver disease; 16 with viral hepatitis. Other causes included hematologic disorders (10), malignancy (2) and inflammatory arthritis (2). On liver biopsy, 8 patients showed no increase in stainable iron while 10 showed mild-moderate increase. 7 patients were negative for C282Y and H63D mutations. Of the 40 cases of isolated hyperferritinemia, 38 had normal liver enzymes. 2 had liver biopsies showing mild increase in stainable iron. 9 patients underwent C282Y and H63D genotyping with 1 patient being H63D heterozygous. 8 index patients had first-degree relatives with hyperferritinemia. 3 families were identified with more than 2 members affected, suggestive of a possible hereditary hyperferritinemia syndrome. Conclusion. Hyperferritinemia appears to be relatively common in Asians but classic hemochromatosis is not. Liver disease is a frequent cause of hyperferritinemia in the Asian population. We have, however, discovered a small group of healthy patients with no evidence of liver disease and isolated hyperferritinemia that in some cases appears to be familial. This has not been previously reported.
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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 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.001 | 0.002 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.003 | 0.001 |
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".