Hb Stanleyville-II [ α78(EF7)Asn→Lys (α2); HbA2: c.237C>A]: Incidence of 1:11,500 in a Newborn Screening Program in Brazil
Bibliographic record
Abstract
Almost 3 million babies were tested in a newborn screening program in Minas Gerais, Brazil (1998-2008); 128 who have S-like hemoglobins (Hbs) were tested for the βS allele and 112 were identified through polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) or sequencing. Hb Stanleyville-II [α78(EF7)Asn→Lys (α2); HbA2: c.237C>A] was present in 96 children (85.7%), two in a homozygous state and 94 in a heterozygous state. Its estimated prevalence was 1:11,500. Hbs Hasharon [α47(CE5)Asp→His, GAC>CAC (α2)], Ottawa [α15(A13)Gly→Arg (GGT>CGT) (α2 or α1)], G-Ferrara [β57(E1)Asn→Lys (AAC>AAA or AAG)], St. Luke's [α95(G2)Pro→Arg, C CG>C GG (α1)], Maputo [β47(CD6)Asp→Tyr (GAT>TAT)] and Etobicoke [α84(F5)Ser→Arg (AG C>AG G or CGC or AGA) (α2 or α1)] were also identified. Many children with Hbs Stanleyville-II and Hasharon also co-inherited the −α3.7 thalassemia gene. African ancestry was recognized by parents of all 31 children with Hb Stanleyville-II who were interviewed. Mean corpuscular volume (MCV) and mean corpuscular Hb (MCH) values were significantly lower in children with α-thalassemia (α-thal). We came to the conclusion that Hb Stanleyville-II is not so uncommon in Brazil and seems to have originated from the African slave trade. This study reinforces the importance of an accurate diagnosis of variants that have electrophoretic mobility similar to Hb S [β6(A3)Glu→Val, GAG>GTG] so that false diagnoses are avoided.
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot 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.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.001 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.001 |
| Insufficient payload (model declined to judge) | 0.000 | 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 teacher head, 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".