Genetic haematological disorders
Weatherall D., Letsky EA.
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.