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Identifying homozygous sickle cell disease when neonatal screening is not available: a clinic-based observational
I R Hambleton1, K J J Wierenga
1Sickle cell Unit, Tropical Medicine Research Institute, University of the West Indies, Mona, Kingston 7, Jamaica. ian.hambleton@uwimona.edu.jm
Insights
Many children with sickle cell disease miss early interventions. Without newborn screening, most affected children do not enroll in specialist clinics early enough for crucial preventive care, impacting long-term health outcomes.
Area of Science:
- Hematology
- Pediatrics
- Public Health
Background:
- Homozygous sickle cell disease (SCD) presents life-threatening complications in early childhood.
- Early identification and specialist clinic management are crucial for SCD care.
- Penicillin prophylaxis is vital for SCD patients until age five.
Purpose of the Study:
- To predict the enrollment rates of children with SCD in specialist clinics in Jamaica.
- To determine the percentage of children enrolling early enough for penicillin prophylaxis.
- To assess the long-term enrollment trends in SCD care programs.
Main Methods:
- Retrospective study analyzing enrollment data from 1973 to 1999.
- Data collected from three specialized sickle cell disease clinics in Jamaica.
- Analysis focused on children not identified through newborn screening.
Main Results:
- Enrollment by age five for children born in 1999 was predicted to reach 35.7%, up from 10.1% in 1974.
- Enrollment by age 18 peaked at 61.9% for births in 1984, declining to 48.9% for 1999 births.
- Median age at enrollment was 10.5 years, indicating significant delays in accessing care.
Conclusions:
- Approximately 65% of children with SCD not identified at birth miss critical early interventions.
- Half of all SCD patients do not enroll in specialized care by age 18.
- Late enrollment, often in adolescence, shifts focus away from essential preventive measures.
Objectives:
Life-threatening clinical complications can occur in the first years of life in people with homozygous sickle cell disease. There is consensus that a clinical care programme comanaged by a specialist clinic should follow early-life disease identification. In a setting without widespread neonatal screening for this disease, we predict the percentage of affected births that enrol in specialist clinics during childhood, and the percentage that enrol early enough to benefit from penicillin prophylaxis (which is offered until five years of age).
Setting:
A retrospective study of enrolment between 1973 and 1999 at three clinics in Jamaica, the country's only referral centres for sickle cell disease.
Results:
Among enrolees not screened at birth, observed enrolment by age five was 10.1% (95% confidence interval [CI] 5.7-16.7%) among 1974 births, which is predicted to rise to 35.7% (95% CI 35.0-36.4%) among 1999 births. Observed enrolment by 18 years of age was 45.9% (95% CI 35.7-58.2%) among 1974 births, which is predicted to peak at 61.9% (95% CI 60.5-63.2%) among 1984 births, and fall to 48.9% (95% CI 40.9-56.9%) among 1999 births. Median age at enrolment was 10.5 years (95% CI 10.0-11.3).
Conclusions:
Based on 1999 estimates, almost 65% of children affected by homozygous sickle cell disease not identified at birth will not benefit from important early-life clinical intervention, and half will not enrol for specialised care by their 18th birthday. Among patients that enrol, half do so in adolescence when management is less focused on preventive care.
