Hb Evora [ 2 35, Ser->Pro], a novel hemoglobin variant associated with an -thalassemia phenotype
Bibliographic record
Abstract
Gomes and colleagues recently reported a missense mutation involving amino acid codon 35 of the α2-globin gene (TCC→CCC, Ser→Pro). 1 This mutation was found in members of two unrelated families, both of Portuguese Caucasian background.The carriers had an α + -thalassemia phenotype with mild microcytosis and hypochromia.The authors postulated that the mutation gives rise to a highly unstable Hb variant, which was named Hb Évora.This mutation was first reported by us in 2001. 2 The affected infant was a compound heterozygote for the codon 35 TCC→CCC mutation and the Filipino α 0 -thalassemia deletion, and was afflicted with the Hb H hydrops fetalis syndrome.The newborn was delivered at 34.5 weeks of gestation because of fetal distress.He had severe anemia, pericardial effusion, hepatosplenomegaly, bilateral inguinal testes and ambiguous genitalia.The infant had a stormy postnatal course and was transfused six times during the first four months of life.Both his parents were of Filipino descent, living in California (USA).The father was heterozygous for the codon 35 TCC→CCC mutation and had mild microcytosis and hypochromia, absence of Hb H inclusion bodies, and normal level of Hb A2.An abnormal Hb could not be detected by IEF or HPLC.Furthermore, synthesis of a variant Hb could not be demonstrated by in vitro labeling of newly synthesized globin chains with [ 3 H]-leucine. 2Taken together, these observations are consistent with hyperinstability of the mutant globin chain or Hb.We have subsequently developed a multiplex PCR-ARMS diagnostic test to detect the codon 35 TCC→CCC mutation and five other α2-globin gene mutations (Hb Constant Spring, Hb Quong Sze, initiation codon
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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 | 0.000 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.000 |
| 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".