Hemoglobin Ville-Marie: A New β-Globin Variant (del480C) Causing Oxydative Hemolysis.
Bibliographic record
Abstract
Abstract Introduction: A 26 year old male patient was investigated at Maisonneuve-Rosemont Hospital (Montreal, Canada) for chronic hemolysis. The patient was known for many years to have chronic hemolysis of unknow etiology and splenomegaly. He had previously undergone cholecystectomy. There was no family history of hemolytic anemia. The investigation revealed a normal automated CBC but the blood smear showed polychromatophilia, basophilic stippling and a few degmacytes (bite cells). The serum chemistry analysis revealed an increased LDH and bilirubin and a decreased haptoglobin level. The search for Heinz body was positive after exposure to acetyl phenylhydrazine. Unstable hemoglobin was demonstrated using the isopropanol test, but the heat instability test was negative. The dosages of erythrocyte enzymes (G-6PD, pyruvate kinase, gluthation reductase and acethylcholinesterase) were normal. Hb HPLC analysis was done using a VARIANT II, Bio-Rad. Results demonstrated the presence of normal HbA and an abnormal Hb migrating as Hb Hope at a level of 24% of total hemoglobin. Methods and Results: Blood DNA sample was obtained to perform automated sequencing of the β-globin gene (HBB). The HBB gene was sequenced using primers designed to amplify coding sequences of the three exons, splice junctions, introns and the promoter region. Five samples (the patient and four controls) were analysed. Sequence were compared to the cDNA sequence of the HBB gene (NM_000518) and from the genomic sequence of the region (AC104389). In the case of the propositus, a 1 nucleotide deletion was detected at codon 142 (nucleotide 480 of GenBank entry NM_000518) in exon 3, causing a reading frameshift. This deletion (TGCCCTGGCC [C/del] ACAAGTATCA) was never detected before and eliminates the regular stop codon (TAA) at position 147. A new stop codon is therefore produced after the addition of 14 residues, identical to those observed in Hbs Saveme, Trento and TAK, all of which result from a similar reading frameshift secondary to a deletion. However, a threonine residu is present at position 142 in the case of the propositus. Conclusion: Hemoglobin Ville-Marie is an elongated C-terminal hemoglobin variant causing mild compensated hemolytic anemia with some degree of hemoglobin instability. Others analysis are being performed to better characterise this new hemoglobin variant, the results of which will be presented at the meeting.
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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) | 0.002 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.002 | 0.001 |
| Insufficient payload (model declined to judge) | 0.005 | 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".