Chapter

<i>Genetic haematological disorders</i>

Sir David Weatherall and Elizabeth A. Letsky

in Antenatal and Neonatal Screening

Second edition

Published in print November 2000 | ISBN: 9780192628268
Published online September 2009 | e-ISBN: 9780191723605 | DOI: http://dx.doi.org/10.1093/acprof:oso/9780192628268.003.0011
Genetic haematological disorders

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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.

Keywords: antenatal screening; neonatal screening; sickle cell disease; thalassaemia; glucose-6-phosphate dehydrogenase deficiency; hereditary bleeding diseases; genetic disorders; haemoglobin

Chapter.  18025 words.  Illustrated.

Subjects: Public Health and Epidemiology

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