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.

Clinical Features and Outcome of Sickle Cell Disease in a Tertiary Center in Northern Lebanon: A Retrospective Cohort Study in a Local, Hospital-Associated Registry

“…Because of the difference in VOC definition, it is not surprising to see a higher overall VOC rate in patients aged 0-5 years in this study (59.5% of the total cohort) than in the French study. RBC transfusion was also the most often used therapeutic intervention by 3 and 5 years among all patients in the analysis by Brousse et al [25], similar to trends observed in this study.…”

“…It has been shown that as patients with sickle cell disease age, the VOC rate and other disease complications tend to progressively increase. Another study conducted in France [25] following sickle cell disease patients up to the age of 5 years old noted that 42.9% of their cohort experienced a first VOC at 3 years, a lower rate than observed in the 0-3 years age group in this study. The French study defined VOC as pain and dactylitis, rather than a composite of VOC and ACS as in this study.…”

“…The French study defined VOC as pain and dactylitis, rather than a composite of VOC and ACS as in this study. The rate of a first episode of pneumonia/ACS in the French study [25] was rather high (64.8%). Because of the difference in VOC definition, it is not surprising to see a higher overall VOC rate in patients aged 0-5 years in this study (59.5% of the total cohort) than in the French study.…”

Identification of Clinical and Laboratory Parameters Associated with the Development of Acute Chest Syndrome during Vaso-Occlusive Episodes in Children with Sickle Cell Disease: A Preliminary Step before Assessing Specific and Early Treatment Strategies

“…Sickle cell disease (SCD) is an increasing genetic hemoglobinopathy in France, with a persistent high morbidity among children [1]. Vaso-occlusive episodes (VOEs), also known as acute severe pain episodes, are the leading cause of hospitalization among children with SCD [1].…”

“…Sickle cell disease (SCD) is an increasing genetic hemoglobinopathy in France, with a persistent high morbidity among children [1]. Vaso-occlusive episodes (VOEs), also known as acute severe pain episodes, are the leading cause of hospitalization among children with SCD [1]. In children admitted for VOE, the main severe complication is the secondary development of acute chest syndrome (ACS), an acute clinical condition of SCD defined by fever and/or respiratory symptoms and accompanied by new pulmonary infiltrate on a chest X-ray [2].…”