S117: LONG-TERM FOLLOW UP OF DUTCH PATIENTS WITH SCD DIAGNOSED BY NEONATAL SCREENING -- EFFECT ON THE MORBIDITY AND MORTALITY IN THE NETHERLANDS.

Abstract

Background: Newborn screening for sickle cell disease (SCD) has been introduced in January 2007 in the Netherlands. The objective of this study is to assess the effect of this neonatal screening for SCD by describing the residual risks of death and major disease-related events during the first fourteen years of life in children diagnosed with SCD at birth in the Netherlands. Aims: The objective of this study is to assess the effect of this neonatal screening for SCD by describing the residual risks of death and major disease-related events during the first fourteen years of life in children diagnosed with SCD at birth in the Netherlands. Methods: Here we report the first data of one center (Amsterdam UMC) of this prospective, national multicenter study. Following informed consent data were collected from medical files of all children born after 1 January 2007, diagnosed by neonatal screening. Descriptive data on SCD genotype, occurrence of major disease-related events (hospitalization for vaso-occlusive crisis (VOC), acute chest syndrome/pneumonia, severe infections and neurological complications) are presented. Overall survival and survival without specific SCD-related complications were analyzed by Kaplan-Meier curves. Results: Up until now, 98 (56%) out of 174 eligible subjects from this institution were included, with a total follow-up of 805 patient-years. This concerns approximately 35% of the national number. The majority (55%) had the severe genotype (HbSS/ beta0-thalassemia), the remainder had the milder genotype (HbSC or HbS/beta+-thalassemia). Survival by the age of 14 was 98.9%, with 1 death at the age of 1 years due to sepsis. Seven patients (7.1%) had a severe infection (meningitis, sepsis, osteomyelitis) caused by Streptococcus Pneumoniae in 3/7 cases. Two patients experienced a symptomatic cerebral infarction at the age of 11 months and 1.5 years. At the age of 10 years the survival without hospitalization for vaso-occlusive crisis was 27% (95% CI: 12.7 – 43.14%) and 51% (25.3 – 72.0%) for the SS/Sβ0 and SC/Sβ+ genotype respectively. Conclusion: In this cohort of neonatally screened patients with SCD, the SCD-related mortality and morbidity is still impressive with 1% mortality, 3 severe infections caused by Streptococcus Pneumoniae, and 2 patients with neurological complications. A final analysis of the effect of neonatal screening for SCD will follow after completion of data collection in all participating centers in the Netherlands.