Newborn screening for haematological disorders

    Research output: Contribution to journalArticlepeer-review

    Abstract

    This article provides an overview of neonatal screening for haematological conditions, with an emphasis on sickle cell disease and thalassaemia. We describe the clinical importance of haemoglobinopathies, developments in provision of care for such patients in England and update on clinical care for haemoglobinopathies sharing epidemiological data from the newborn screening programme. This shows that the birth prevalence of screen positive cases appears to have declined overall. The paper also provides useful links to a range of reports and resources which are of use to paediatricians, who are increasingly involved in the management of these conditions.
    Original languageEnglish
    JournalPaediatrics and Child Health (United Kingdom)
    DOIs
    Publication statusE-pub ahead of print - 24 Aug 2017

    Keywords

    • ethnic variation
    • haemoglobinopathies
    • newborn screening
    • sickle cell disease
    • thalassaemia

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