Pyrimidine 5′ nucleotidase deficiency

Abstract

Pyrimidine 5′ nucleotidase (P5′N-1) deficiency is one of the very few causes of haemolysis which produces a characteristic blood film appearance. Although it is a rare condition, it forms a significant proportion of cases of congenital, non-spherocytic haemolytic anaemia. Lead poisoning is an important cause of acquired P5′N-1 deficiency. The recent description of the genetic basis of the condition allows further investigation of its possible role in learning difficulties and β thalassaemia.