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Journal of Clinical Pathology 2009;62:18-21; doi:10.1136/jcp.2008.058826
Copyright © 2009 by the BMJ Publishing Group Ltd & Association of Clinical Pathologists.

ORIGINAL ARTICLES

Starting neonatal screening for haemoglobinopathies in The Netherlands

P C Giordano

Correspondence to:
P C Giordano, Human and Clinical Genetics Department, Hemoglobinopathies Laboratory, Leiden University Medical Centre, O&O Building, Einthovenweg 20, 2333 ZC, Leiden, The Netherlands; p.c.giordano{at}lumc.nl

Neonatal screening for haemoglobinopathies started in The Netherlands on 1 January 2007. The method of choice, high-performance liquid chromatography, and the universal setting have shown that the predicted incidence is indeed present in the country. Patients and carriers are reported in order to prevent morbidity, and for the primary prevention of serious haemoglobinopathies. Background, preceding discussion, health gain, implementation, provisional results and ethics issues are discussed, as well as matters concerning technology, know-how, and ongoing and future developments.


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