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. 2019 Oct 2;8(10):1594.
doi: 10.3390/jcm8101594.

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

Valentine Brousse  1 , Cécile Arnaud  2 , Emmanuelle Lesprit  3 , Béatrice Quinet  3 , Marie-Hélène Odièvre  4 , Maryse Etienne-Julan  5 , Cécile Guillaumat  6 , Gisèle Elana  7 , Marie Belloy  8 , Nathalie Garnier  9 , Abdourahim Chamouine  10 , Cécile Dumesnil  11 , Mariane De Montalembert  12 , Corinne Pondarre  2   9 , Françoise Bernaudin  2 , Nathalie Couque  13 , Emmanuelle Boutin  14 , Josiane Bardakjian  15 , Fatiha Djennaoui  16 , Ghislaine Ithier  17 , Malika Benkerrou  17 , Isabelle Thuret  18
Affiliations

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

Valentine Brousse et al. J Clin Med. .

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.

Keywords: morbidity; mortality; newborn screening; sickle cell disease; transcranial Doppler; vaccination coverage.

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Conflict of interest statement

The authors declare no conflict of interest. The funders had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the manuscript, or in the decision to publish the results.

Figures

Figure 1
Figure 1
Flow-chart of the study.
Figure 2
Figure 2
Probability of survival by five years of age.
Figure 3
Figure 3
(a) Probability of survival without stroke; (b) probability of survival without abnormal transcranial Doppler (TCD) in children with SS/SB° disease.
Figure 4
Figure 4
Probability of survival without (a) vaso-occlusive events, (b) acute chest syndrome/pneumonia, (c) acute splenic sequestration.
See this image and copyright information in PMC

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