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© Nicholas Wald and Ian Leck, 2000. All rights reserved. This main focus of this chapter is on genetic disorders of the structure or synthesis of haemoglobin - especially sickle cell disease and the thalassaemias, which are common enough in many populations to justify antenatal and neonatal screening. Glucose-6- phosphate dehydrogenase deficiency also merits screening in certain populations where it commonly causes neonatal jaundice and kernicterus; and screening for hereditary bleeding diseases is indicated if there is a history of a previously affected child.

Original publication

DOI

10.1093/acprof:oso/9780192628268.003.0011

Type

Chapter

Book title

Antenatal and Neonatal Screening

Publication Date

01/09/2009