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Record W4415372345 · doi:10.1007/s00277-025-06631-4

The first Chinese hb m-saskatoon [HBB: c.190 c > t p.His64Tyr] case with low oxygen saturation in 50-year-old women

2025· article· en· W4415372345 on OpenAlexaboutno aff
Ying‐Jun Zhang, Ge Zhang, Lei Ye, Qingkai Dai, Luyun Peng, Rui Shi, Siqi Guo, Jiajing He, Hao Yang, Kai Huang, Liang Zhang, Yuefang Wang

Bibliographic record

VenueAnnals of Hematology · 2025
Typearticle
Languageen
FieldMedicine
TopicMethemoglobinemia and Tumor Lysis Syndrome
Canadian institutionsnot available
Fundersnot available
KeywordsMissense mutationMutationMethemoglobinemiaHematologyGeneGenotype

Abstract

fetched live from OpenAlex

We reported the first Chinese case of Hb M Saskatoon in a 50-year-old female patient, with the primary manifestation of low oxygen saturation (O2Sat) (78.9%) as well as high methemoglobinemia (MetHb) (12.1%) and other abnormal results in laboratory tests. Gene sequencing revealed that the missense mutation is located in the HBB gene (HBB: c.190 C > T p.His64Tyr), which was described as Hb M Saskatoon disease. This mutation has been reported worldwide in fewer than ten cases, and there have been no reports in China yet. Here, we provide a comprehensive report of all the clinical features of this patient and discuss the potential physiological mechanisms involved in this case.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame distilled prediction

Teacher imitation

Not 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.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.174
Threshold uncertainty score0.554

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0000.001
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

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.

Opus teacher head0.011
GPT teacher head0.289
Teacher spread0.277 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one teacher head, not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical

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".

Quick stats

Citations1
Published2025
Admission routes1
Has abstractyes

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