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Updated: Oct 30, 2025
A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy
Health services use by children identified as heterozygous hemoglobinopathy mutation carriers via newborn screening
Sara D Khangura1, Beth K Potter1,2,3, Christine Davies2
1School of Epidemiology and Public Health, University of Ottawa, 415 Smyth Road, Ottawa, Ontario, K1H 8M8, Canada.
Insights
Newborn screening for sickle cell disease identifies carriers of hemoglobinopathy mutations. This study found small, inconsistent differences in health service use, suggesting carrier status is likely benign in early childhood.
Area of Science:
- Genetics and genomics
- Pediatric health
- Public health screening
Background:
- Newborn screening (NBS) for sickle cell disease incidentally identifies heterozygous carriers of hemoglobinopathy mutations.
- Carrier results are not routinely disclosed in Ontario, Canada, creating an opportunity to study potential health implications.
- This study investigated health service utilization among children identified as carriers versus screen-negative controls.
Purpose of the Study:
- To compare health services use between children identified as hemoglobinopathy mutation carriers and matched screen-negative controls.
- To assess the potential health implications of carrier status in early childhood.
- To inform policies regarding the disclosure of incidental carrier findings from NBS.
Main Methods:
- A cohort study using health care administrative data in Ontario, Canada (October 2006 - March 2010 births).
- Identified 4987 carriers and 24,935 matched screen-negative controls.
- Compared rates of inpatient hospitalizations, emergency department visits, and physician encounters using multivariable negative binomial regression.
Main Results:
- Statistically significant differences in health services use were observed between carriers and controls.
- For children under 1 year, carriers had higher rates of ED visits (1.11) but similar hospitalization rates (0.97).
- For children 1 year and older, carriers had higher hospitalization rates (1.14) but lower physician encounter rates (0.92).
Conclusions:
- Observed differences in health services use between carriers and controls were small and inconsistent across age groups and service types.
- Findings support the assumption that hemoglobinopathy carrier status is likely benign in early childhood.
- Further research may be needed to understand long-term health implications, if any.
Background:
Newborn screening (NBS) for sickle cell disease incidentally identifies heterozygous carriers of hemoglobinopathy mutations. In Ontario, Canada, these carrier results are not routinely disclosed, presenting an opportunity to investigate the potential health implications of carrier status. We aimed to compare rates of health services use among children identified as carriers of hemoglobinopathy mutations and those who received negative NBS results.
Methods:
Eligible children underwent NBS in Ontario from October 2006 to March 2010 and were identified as carriers or as screen-negative controls, matched to carriers 5:1 based on neighbourhood and timing of birth. We used health care administrative data to determine frequencies of inpatient hospitalizations, emergency department (ED) visits, and physician encounters through March 2012, using multivariable negative binomial regression to compare rates of service use in the two cohorts. We analyzed data from 4987 carriers and 24,935 controls.
Results:
Adjusted incidence rate ratios (95% CI) for service use in carriers versus controls among children < 1 year of age were: 1.11 (1.06-1.17) for ED visits; 0.97 (0.89-1.06) for inpatient hospitalization; and 1.02 (1.00-1.04) for physician encounters. Among children ≥1 year of age, adjusted rate ratios were: 1.03 (0.98-1.07) for ED visits; 1.14 (1.03-1.25) for inpatient hospitalization and 0.92 (0.90-0.94) for physician encounters.
Conclusions:
While we identified statistically significant differences in health services use among carriers of hemoglobinopathy mutations relative to controls, effect sizes were small and directions of association inconsistent across age groups and health service types. Our findings are consistent with the assumption that carrier status is likely benign in early childhood.
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