Hereditary elliptocytosis (HE) is an autosomal dominant condition characterised by elliptocytic red blood cells (typically, >25% of RBCs being elliptocytes or ovalocytes, but this is not an absolute rule). It is caused by mutations in α- and ß-spectrin. The majority of cases are asymptomatic, but some patients can have a severe haemolyic anaemia.
Blood film features:
- Predominantly elliptocytes
- Some patients may have ovalocytes
- Normal haemoglobinisation of cells
- More severe cases may have polychromasia and occasional fragments / spherocytes
Differential diagnosis:
The main differential diagnosis is iron deficiency. The main difference between HE and iron deficiency is the normal haemoglobinisation of cells, as opposed to the microcytic, hypochromic anaemia which characterises iron deficiency.
Some patients have haemolysis severe enough to require splenectomy. Acanthocytes and spherocytes may become more prominent following splenectomy, in addition to the usual post-splenectomy features. Adjust the brightness using the toolbar if the film appears too dark.
Leave A Comment