Hb Grifton [α87(F8)His→Pro;<i>HBA1</i>: C.263A > C (or<i>HBA2</i>)] Causes Abnormal Pulse Oximetry Measurements
Bibliographic record
Abstract
An asymptomatic toddler and his mother consistently demonstrated low transcutaneous pulse oximetry (SpO2) measurements, discordant with normal arterial blood gas analyses while breathing room air. Previous evaluations by medical teams were unable to identify an etiology of their perceived hypoxia. Further investigation revealed that the boy carried an abnormal variant, Hb Grifton or α87(F8)His→Pro; HBA1: c.263A > C (or HBA2), discovered on newborn screening, which was not suspected as the underlying cause of his abnormal pulse oximetry readings until an inpatient admission to our hospital for asymptomatic "hypoxia," where he was found to share these same characteristics with his mother. We showed that a difference in light absorption between the oxygenated Hb Grifton variant and oxygenated Hb A resulted in erroneous pulse oximetry values. This phenomenon has previously been reported in a handful of other variant Hbs. Astute clinical suspicion, in conjunction with laboratory testing leading to correct diagnoses of variant Hbs, may prevent expensive work-ups and unnecessary medical treatments for asymptomatic patients falsely presumed to be hypoxemic based on low pulse oximetry measurements.
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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) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.001 | 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".