Newborn screening of sickle cell disease and management of care.
2019
: Newborn screening of sickle cell disease -NBS- is systematic in the French West Indies and targeted in Metropolitan France to babies from "at risk" countries. The percentages of targeted babies range from 9.1% in Brittany to 73.6% in the Parisian area. NBS is performed on a drop of blood collected by heel stick and put on a blotting paper. Electrophoretic and chromatographic techniques are used to separate and quantify hemoglobin fractions. When a test finds abnormal results, confirmatory tests using a different technique are needed. In case of heterozygote baby, results are disclosed by mail or during a consultation according to local protocols. For children with major sickle cell syndromes -SCD-, results are disclosed by a specialist of SCD. All infants have to be included in a network of physicians including proximity health care providers and expert centers. Parents must be taught how to be the first line actors and must learn the signs prompting for going to Emergency department. In 2016, 431 children with SCD have been diagnosed in France, which represents 1/771 screened babies.
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