Inherited haemolytic anaemias

Abstract 

Congenital red blood cell disorders, affecting their structure or content, result in the premature destruction of the red cell: haemolysis. This damage may be acute or chronic, intravascular or extravascular, and results in anaemia and hyperbilirubinaemia. Some conditions are associated with significant morbidity and mortality, whereas others cause intermittent symptoms and are associated with a normal life expectancy. A better understanding of the pathophysiology, advances in basic science and molecular techniques, improved management of complications, and drug development has led to decreased morbidity and in the case of haemoglobinopathies, improved survival in the developed world.

Keywords: glucose-6-phosphate dehydrogenase deficiency, haemoglobinopathy, haemolytic anaemia, hereditary spherocytosis, sickle cell disease, thalassaemia