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  • Title: [One year of neonatal screening for sickle-cell disease in Emma Children's Hospital/Academic Medical Center in Amsterdam].
    Author: Heijboer H, van den Tweel XW, Peters M, Knuist M, Prins J, Heymans HS.
    Journal: Ned Tijdschr Geneeskd; 2001 Sep 15; 145(37):1795-9. PubMed ID: 11582643.
    Abstract:
    OBJECTIVE: Early detection of children with sickle cell disease, determination of carriership frequency as well as evaluation of the knowledge regarding this haemoglobinopathy in various ethnic risk groups. DESIGN: Prospective. METHODS: From 1 November 1998 through to 31 October 1999, the ethnic background was recorded for consecutive pregnant women under care of the Academic Medical Centre, Amsterdam, the Netherlands, and the presence of carriership for sickle cell disease was evaluated. Carriers were asked about their knowledge of sickle cell disease. A diagnostic blood test of cord blood was also performed using a PCR which could detect both haemoglobin S and C mutations. RESULTS: Fifty-five carriers were detected in a group of 1,016 investigated pregnant women (5.4%). The carriership frequencies in Surinam and African women were 12 and 15.7%, respectively. Knowledge of sickle cell disease, its occurrence in populations at risk, as well as the terms 'inheritance' and 'carriership', differed substantially between Surinam and African women, with awareness being lower in the latter group. In six cases informed consent was not asked. All other 49 carriers consented to a diagnostic test. Two intrauterine deaths occurred. Four children had sickle cell disease: three had HbSS, one had HbSC. Nineteen children proved to be carriers for sickle cell disease, 18 were heterozygotes for HbS, one for HbC. CONCLUSION: This targeted neonatal screening for sickle cell disease was feasible in a hospital setting. The number of children diagnosed with the disease supports the wider implementation of this method of early detection.
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