Evaluation of Outcomes and Quality of Care in Children with Sickle Cell Disease Diagnosed By Newborn Screening: A Real-World Nation-Wide Study in France

Abstract

This study's objective was to assess, on a national scale, residual risks of death, major disease-related events, and quality of care during the first five years in children diagnosed at birth with sickle cell disease (SCD). Data were retrospectively collected from medical files of all children with SCD born between 2006-2010 in France. Out of 1792 eligible subjects, 1620 patients (71.8% SS or S/beta • -thalassemia -SB • -) had available follow-up data, across 69 centers. Overall probability of survival by five years was 98.9%, with 12/18 deaths related to SCD. Probability of overt stroke by five years in SS/SB • patients was 1.1%, while transcranial Doppler (TCD) was performed in 81% before three years of age. A total of 26 patients had meningitis/septicemia (pneumococcal in eight cases). Prophylactic penicillin was started at a median age of 2.2 months and 87% of children had received appropriate conjugate pneumococcal vaccination at one year. By five years, the probability of survival without SCD-related events was 10.7% for SS/SB • patients. In contrast, hydroxyurea was prescribed in 13.7% and bone marrow transplant performed in nine patients only. In this study, residual risks of severe complications were low, probably resulting from a good national TCD, vaccination, and healthcare system coverage. Nonetheless, burden of disease remained high, stressing the need for disease-modifying or curative therapy.

Brain injury pathophysiology study by a multimodal approach in children with sickle cell anemia with no intra or extra cranial arteriopathy

“…Hb was preferred to blood viscosity as tissue oxygenation is thought to be highly dependent on the number of RBC and Hb concentration. None of the parameters was significant ( P =0.38 and P =0.35 for the right and left ctSO 2 , respectively), which may be explained by the fact that all are interrelated to affect brain oxygenation.…”

“…In the whole population, cerebral oximetry results showed a significant positive correlation with Hb, SpO 2 , RBC deformability, blood viscosity and HbF and a negative correlation with markers of hemolysis (total bilirubin and LDH) as well as the RBC disaggregation threshold ( Table 4 ). Of note, blood pressure, age, reticulocyte count, level of selectins and TCD velocities did not correlate with oximetry results.…”

“…Of note, blood pressure, age, reticulocyte count, level of selectins and TCD velocities did not correlate with oximetry results. A multivariate analysis was performed for the right and left cerebral tissue hemoglobin oxygen saturation including SpO 2 , Hb, RBC deformability, HbF, LDH and the RBC disaggregation threshold. Hb was preferred to blood viscosity as tissue oxygenation is thought to be highly dependent on the number of RBC and Hb concentration.…”

“…the three groups were then compared using a one-way ANOVA with Tukey post hoc test. A 2 test was used for the qualitative analyses. The significance level was defined as P <0.05 (SPSS, v. 20, IBM SPSS Statistics, Chicago, IL).…”

“…Historically, overt stroke used to be the most distressing clinical complication in childhood but its prevalence has dropped from 10% to 1-3% in high-income countries since the implementation of a preventive screening strategy by transcranial Doppler (TCD) coupled with chronic transfusion therapy in case of abnormal results. 1 , 2 , 3 , 4 In sharp contrast, the contribution of silent cerebral infarcts (SCI) to global neurovascular burden has emerged, following the improved ability to detect subclinical lesions by magnetic resonance imaging (MRI). SCI are found in up to 37% of SCA children before the age of 14 years, can be detected as early as 1 year old and their prevalence increases with age.…”