hereditary elliptocytosis with neonatal poikilocytosis

Last reviewed 01/2018

Neonates in some hereditary elliptocytosis families, particularly Afro-Carribean, may present with:

• severe haemolysis with red cell budding
• fragmentation
• poikilocytosis

The condition is thought to be due to the destabilisation of spectrin band 4.1 interaction by increased levels of 2,3 DPG resulting from foetal haemoglobin. It progresses into mild HE within 1 or 2 years.