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Updated: Apr 23, 2026
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Mortality of New York children with sickle cell disease identified through newborn screening
Ying Wang1, Gang Liu2, Michele Caggana3
11] School of Public Health, University at Albany, State University of New York, Albany, New York, USA [2] Division of Data Management and Research, Office of Primary Care and Health Management System, New York State Department of Health, Albany, New York, USA.
Insights
Newborn screening for sickle cell disease (SCD) identifies infants, but childhood mortality remains elevated, particularly for those with homozygous SCD. Risk factors include preterm birth and low birth weight.
Area of Science:
- Genetics and genomics
- Pediatric health outcomes
- Public health surveillance
Background:
- Newborn screening (NBS) programs facilitate early identification of genetic conditions.
- Sickle cell disease (SCD) is a heritable blood disorder requiring long-term management.
- Linking NBS data with population registries enables robust outcome assessment.
Purpose of the Study:
- To estimate childhood mortality associated with sickle cell disease (SCD).
- To identify risk factors for mortality in a statewide birth cohort diagnosed via NBS.
- To assess the impact of NBS on SCD-related child mortality.
Main Methods:
- Matched birth and death certificates for New York State infants born 2000-2008 with SCD identified by NBS.
- Calculated all-cause mortality rates per 1,000 person-years.
- Compared SCD mortality rates with the general New York child population, stratified by maternal race/ethnicity and infant factors.
Main Results:
- 21 deaths occurred among 1,911 infants with SCD; mortality was 3.8/1,000 person-years (0-2 years) and 1.0/1,000 person-years (2-9 years).
- Lower mortality observed in children of foreign-born mothers; higher mortality in preterm, low-birth-weight infants.
- Mortality rates for children aged 1-9 with homozygous SCD were 2.7-8.4 times higher than for comparable non-Hispanic Black or Hispanic children.
Conclusions:
- Childhood mortality risk for homozygous sickle cell disease (SCD) remains significantly elevated post-newborn screening.
- Maternal race/ethnicity adjustment did not eliminate the elevated mortality risk.
- These findings highlight the ongoing burden of SCD mortality in children despite NBS.
Purpose:
Long-term follow-up of newborn screening for conditions such as sickle cell disease can be conducted using linkages to population-based data. We sought to estimate childhood sickle cell disease mortality and risk factors among a statewide birth cohort with sickle cell disease identified through newborn screening.
Methods:
Children with sickle cell disease identified by newborn screening and born to New York residents in 2000-2008 were matched to birth and death certificates. Mortality rates were calculated (using numbers of deaths and observed person-years at risk) and compared with mortality rates for all New York children by maternal race/ethnicity. Stratified analyses were conducted to examine associations between selected factors and mortality.
Results:
Among 1,911 infants with sickle cell disease matched to birth certificates, 21 deaths were identified. All-cause mortality following diagnosis was 3.8 per 1,000 person-years in the first 2 years of life and 1.0 per 1,000 person-years at ages 2-9 years. The mortality rate was significantly lower among children of foreign-born mothers and was significantly higher among preterm infants with low birth weight. The mortality rates were not significantly higher for infants after 28 days with sickle cell disease than for all New York births, but they were 2.7-8.4 times higher for children 1 through 9 years old with homozygous sickle cell disease than for those of all non-Hispanic black or Hispanic children born to New York residents.
Conclusion:
Estimated mortality risk in children with homozygous sickle cell disease remains elevated even after adjustment for maternal race/ethnicity. These results provide evidence regarding the current burden of child mortality among children with sickle cell disease despite newborn screening.Genet Med 17 6, 452-459.
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