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.