Newborn screening for sickle cell disease: effect on mortality.

Department of Hematology/Oncology, Children's Hospital, Oakland, CA 94609.
Pediatrics (Impact Factor: 5.3). 07/1988; 81(6):749-55.
Source: PubMed

ABSTRACT Newborn screening for sickle cell disease has been recommended as a method of decreasing patient mortality. However, its effectiveness in accomplishing this has not been reliably measured. To help determine the effectiveness, 10 years of experience in newborn screening have been summarized. The effects of early patient enrollment in a comprehensive treatment program on long-term morbidity and mortality are reported. From 1975 to 1985, 84,663 newborns were screened regardless of race or ethnic background. Bart's hemoglobin was present in 5%, hemoglobin AS in 2.6%, and hemoglobin AC in 0.75%. Excluding Bart's, approximately 3.6% of all newborns were carriers for hemoglobinopathy. Sickle cell disease occurred in 1:951 births (58 hemoglobin SS, 25 hemoglobin FSC, three hemoglobin S-beta +-thalassemia, and three hemoglobin S-beta O-thalassemia). In addition, one in every 4,233 newborns had a clinically significant thalassemia syndrome (eight hemoglobin FE, ten hemoglobin F only, two hemoglobin H). Compared with other newborn screening programs in California, (congenital hypothyroidism, 1:3,849; phenylketonuria 1:22,474, galactosemia 1:74,103), hemoglobinopathies are the most prevalent congenital disease. Eighty-one newborns with sickle cell disease were followed for 7.2 years. Patients experienced 513 hospitalizations, including 13 episodes of sepsis with or without meningitis and ten acute sequestration crises. The overall mortality rate for patients with sickle cell anemia diagnosed in the newborn period was 1.8%. In comparison, the clinical course of 64 patients with sickle cell anemia diagnosed after 3 months of age and followed for an average of 9.4 years was analyzed. Five of these patients died. In two of these, sickle cell anemia was diagnosed at the time of the death.(ABSTRACT TRUNCATED AT 250 WORDS)

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    ABSTRACT: To assess the impact of the implementation of neonatal screening on hospitalization and death rates due to sickle cell disease in patients from the state of Maranhão, Brazil.MethodsA descriptive study was performed of all inpatients and deaths of patients with a diagnosis of sickle cell disease in Maranhão between 1999 and 2012. Data were collected from the Hospital Information System of the Brazilian National Health Service (SUS) and the Death Information System of the Ministry of Health. The implementation of newborn screening tests in Maranhão took place in 2005, and so the periods 1999–2005 (pre) and 2006–2012 (post) were analyzed for trend analysis using a multiple linear regression model. Fisher's exact test was used for the analysis of categorical variables and the Kruskal–Wallis test for continuous variables.ResultsThe rate of hospitalization increased from 0.315 (pre) to 1.832 (post), indicating 5.82 times more admissions (p-value = 0.04). The mortality rate increased from 0.115 to 0.216, that is, 1.88 times higher, but this was not statistically significant (p-value = 0.586). The median age at admission dropped from 11.4 years to 8.7 years (p-value = 0.0002), whereas the median age at death increased from 10 years to 14 years (p-value = 0.665).Conclusion The increases in the rates of hospitalization and death after the implementation of neonatal screening suggests that previously there was an underdiagnosis of sickle cell disease and that screening, along with other factors, increased “visibility” in the state of Maranhão.
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    ABSTRACT: In the first session of the second day, presentations and discussions concentrated on endocrine complications in haemoglobin disorders, mostly iron-load associated but also treatment-related. Topics included growth, diabetes, bone disease, fertility and pregnancy. If complications are not appropriately addressed, they have a significant impact on the quality of life of patients. Various aspects were presented by Dr Ashraf Soliman, Dr Ratna Chatterjee and Dr Rekha Bajoria. The speakers covered clinical, laboratory, radiological and other tools for early diagnosis, treatment and accurate monitoring of endocrine-related complications. Diabetes mellitus affects 20–30% of adult patients with β-thalassaemia and accounts for significant morbidity, so it received particular attention. The presenter focused on prevention and future tools, including imaging (MRI) and biochemical methods of monitoring in order to prevent the development of diabetes. Bone disease, including osteopenia and osteoporosis syndrome (OOS) was also discussed as it is observed in 70–80% of adult patients worldwide and constitutes a major cause of bone pain and fractures
    1 st Pan-Middle East Conference on Haemoglobinopathies, Damascus Syria; 05/2009
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    ABSTRACT: 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 advance online publication 25 September 2014Genetics in Medicine (2014); doi:10.1038/gim.2014.123.
    Genetics in medicine: official journal of the American College of Medical Genetics 09/2014; DOI:10.1038/gim.2014.123 · 6.44 Impact Factor