hereditary pyropoikilocytosis

Last reviewed 01/2018

Hereditary pyropoikilocytosis is a rare autosomal recessive condition, more common in blacks, which is characterised by:

• severe haemolytic anaemia
• marked red cell fragmentation
• microspherocytosis
• poikilocytosis
• MCV less than or equal to 50
• abnormal red cell heat sensitiviy

Although the genetics of HPP differ from those of HE, the two are believed to be related because HPP patients often have relatives with mild HE, and the spectrin defect in HPP is qualitatively similar to that in mild HE.

Haemolysis but not heat sensitivity responds to splenectomy.