Diagnosis is based on presence of ovalocytes on a peripheral blood smear in absence of haemolysis, and should be differentiated from other forms of hereditory elliptocytosis and hereditary spherocytosis. Genetic assays such as PCR amplification may be used to confirm mutation of the SLC4A1 gene.
Southeast Asian ovalocytosis
Refractory anemia with ring sideroblasts
African iron overload
Lymphocyte-variant hypereosinophilia
Refractory anemia with excess of blasts
Wandering spleen
Myomatous erythrocytosis syndrome
Asplenia with cardiovascular anomalies