Lack of an Alberta Newborn Screening Program Is Associated with Delayed Diagnosis of Sickle Cell Disease
Bibliographic record
Abstract
Abstract Background: Sickle cell anemia (SCA) is one of the major hemoglobin disorders worldwide. SCA has a high degree of disease-associated mortality and morbidity that can be prevented by early identification of affected individuals and implementation of comprehensive care measures. Newborn screening (NBS) has been shown to be an effective measure for early diagnosis and to help decrease disease related complications. Alberta has not implemented a routine newborn screening program for hemoglobin disorders. For this reason, we hypothesize that a significant portion of the SCA patients followed at Alberta Children's Hospital (ACH) are diagnosed at a later age (> 1 year of age) due to a presentation with sickle cell complications or from targeted screening at medical visits. The primary objective of the study is to identify the age of diagnosis of SCA patients followed at the Alberta Children's Hospital when a universal newborn screening program was not available. Methods: In this retrospective cohort study, we reviewed 100 charts for patients with hemoglobin (Hb) disorders who had attended Alberta Children's Hospital (ACH) hematology clinic during the period from January 2003 to January 2014. Only patients with SCA (HbSS, Hb SB0, Hb SB+, Hb SC, S-HPFH) were included in the study. Data collected included demographic variables, SCA diagnosis related information such as the age of diagnosis, the reason for screening, and characteristics of the first SCA presentation. Late diagnosis was defined as a diagnosis after 12 months of age. The clinical course of SCA as complications, the age of penicillin prophylaxis initiation and the age of first transcranial Doppler testing (TCD) were obtained as secondary measures. Results: A total of 77 patients with SCA (40.3% male, 59.7% Female) that attended sickle cell clinic at ACH met our inclusion criteria. Thirty-four percent (N=26) of patients were born in Alberta, 26.5% (N=19) in other Canadian provinces and the United States and 41% (N=32) in other parts of the world. The majority (94.8 %) were African, and 5.2% were of other ethnic backgrounds including Arab/Latin American and South Asian. More than half of the patients who were born in Alberta (58 %) were diagnosed after the age of 12 months. The mean (M) age of diagnosis for the patients born in Alberta was 21.4 ± 21 months (median 19, range 0-84). None of the patients were diagnosed because of newborn screening whereas 39% were identified due to family history, 50% due to disease related complication and 8% due to abnormal lab low Hb/abnormal smear. Fifteen percent of those patients never started on penicillin prophylaxis due to old age at the time of diagnosis, otherwise, the mean age of penicillin initiation was 15 ± 10.8 months (median 14, range 2-36). Only 65% of the patients had TCD testing with mean age of the first TCD was 44 ± 24 months (median 36, range 24-96). The mean age of diagnosis was 8 ± 18 months (median 0, range 0-72) for children who were born in other Canadian provinces/US where newborn screening is available. There was a significant difference in the mean age of diagnosis in children with SCA who were born in Alberta (M = 21.4, SD = 21) where newborn screening is not available and sickle cell patients who were born in the United States and elsewhere in Canada (M = 8, SD = 18); t (43) = 2.08, p = 0.043, 95% CI [0.4,25], using an independent samples t-test to compare the mean age. Conclusion: The number of SCA patients attending the ACH Hematology clinic has almost tripled since the time of data collection due to upward trends in immigration. Patients who were born in our province had a significant late diagnosis compared to other jurisdictions and frequently present initially with severe disease complications. Our findings provide strong evidence to support the implementation of a provincial universal screening program so prophylactic treatment, and comprehensive care is provided before the development of clinical complications. Also, positive screening results could provide an additional opportunity to provide timely genetic counseling to at-risk individuals and families in Alberta. Disclosures No relevant conflicts of interest to declare.
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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 | 0.004 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.000 | 0.001 |
| Insufficient payload (model declined to judge) | 0.003 | 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".