Inherited anaemias: sickle cell and thalassaemia

Abstract

Inherited haemolytic anaemias are caused by genetic mutations that result in an abnormality within the red cell, leading to its early destruction. This abnormality can affect the cell membrane (e.g. hereditary spherocytosis), result from an absence or abnormality of a red cell enzyme (e.g. glucose-6-phosphate dehydrogenase deficiency) or affect haemoglobin, leading to a haemoglobinopathy such as sickle cell disease or thalassaemia.