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A Rare Case of Haemoglobin J-Toronto in a Child

2022· article· en· W4287148634 on OpenAlexaboutno aff
Tulsi Jariwala, Aashka Shah, Riddhi Patel, Gargi Patel

Bibliographic record

VenueScholars Journal of Medical Case Reports · 2022
Typearticle
Languageen
FieldMedicine
TopicHemoglobinopathies and Related Disorders
Canadian institutionsnot available
Fundersnot available
KeywordsHemoglobin variantsHemoglobinGlobinGenetic variantsHigh-performance liquid chromatographyAnemiaMedicinePediatricsChemistryGeneticsBiologyGeneInternal medicineChromatographyGenotype

Abstract

fetched live from OpenAlex

Introduction: India is an ethnically diverse country with marked regional variation. This diversity is often reflected in the presence of different Hemoglobin variants. Hb variants arise due to mutations in the genes encoding for the α-chain and β-chain. Hb J is an infrequently found α-globin variant. It is a Fast moving hemoglobin. Haemoglobin J (Hb-J) was first described by Thorup et al. in an African-American patient (1956) and since then more than 50 variants of Hb-J are identified. Hb J-Toronto [alpha5(A3) Ala>Asp] is one of the rare variants identified. Case report: Blood sample of one year old child for high-performance liquid chromatography was received. The HPLC showed an abnormally high peak in P3 window on BIO RAD D10 machine. The high-performance liquid chromatography showed normal hemoglobin Hb F and Hb A2, but showed elevated levels of P3 (31.7%) which indicates presence of a Hb J variant. Conclusion: Hb J-Toronto is a rare variant of abnormal hemoglobin. It has little clinical significance in heterozygous state but when combined with other variants, they may give rise to severe disease.Prenatal analysis, especially by HPLC, is a key screening method to avoid hemoglobinopathies in off springs. One important clinical condition which may lead to a wrong diagnosis of FMH’s is uncontrolled diabetes mellitus.

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 machine prediction

Teacher imitation

Not 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.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.004
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Case report · Consensus signal: Case report
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.007
Threshold uncertainty score0.015

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.004
Meta-epidemiology (narrow)0.0020.002
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0030.003
Science and technology studies0.0030.003
Scholarly communication0.0020.002
Open science0.0010.002
Research integrity0.0060.004
Insufficient payload (model declined to judge)0.0040.001

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.

Opus teacher head0.011
GPT teacher head0.292
Teacher spread0.281 · 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 source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designCase report
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".

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Citations0
Published2022
Admission routes1
Has abstractyes

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