Newborn screening for sickle cell disease in France

被引：11

作者：

Brousse, Valentine ^{[1
,2
]}

Allaf, Bichr ^{[3
]}

Benkerrou, Malika ^{[1
,4
]}

机构：

[1] Hop Univ Robert Debre, AP HP, Ctr Reference Drepanocytose, 48 Blvd Serurier, F-75019 Paris, France

[2] INSERM, UMRS1134 Biol Integree Globule Rouge, 6 Rue Alexandre Cabanel, F-75015 Paris, France

[3] Hop Univ Robert Debre, AP HP, Serv Biochim, 48 Blvd Serurier, F-75019 Paris, France

[4] INSERM, UMR 1123 Epidemiol Clin Evaluat Econ Appl Populat, F-75010 Paris, France

来源：

M S-MEDECINE SCIENCES | 2021年 / 37卷 / 05期

关键词：

IMPROVED SURVIVAL; CHILDREN; ANEMIA; COHORT;

D O I：

10.1051/medsci/2021056

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

Newborn screening (NBS) for sickle cell disease (SCD) in France has allowed the identification of 9,260 children with SCD since 1989, including 583 in 2019. In mainland France, however, SCD screening is targeted to newborns identified at risk of SCD, i.e born from parents originating from countries with a high SCD prevalence. This screening program, combined to prophylactic measures and a well-organized social and health network in France, has demonstrated considerable efficacy in reducing childhood mortality as well as severe infectious, anemic and neurovascular complications in childhood. SCD NBS has additionally allowed the identification of 180,687 heterozygous (AS) children since 1989. The increasing incidence of SCD (1/1,303 new-borns identified in 2019 versus 1/2,089 in 2009) now pleads for universal NBS and strong advocacy regarding SCD, the most frequent disease identified by NBS in France, and a major public health issue.

引用

页码：482 / 490

页数：9

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