#00065014

Hereditary elliptocytosis (HE) is a genetic disorder affecting the red blood cell membrane, resulting in elliptically shaped erythrocytes. When more than 50% of red blood cells in a peripheral smear exhibit an elliptical shape, it typically suggests moderate to severe forms of HE. This occurs due to mutations in genes coding for cytoskeletal proteins like spectrin, ankyrin, or band 4.1, which maintain the biconcave shape of red cells.

A case with more than 50% elliptocytes might be associated with homozygous HE or compound heterozygous forms, where the patient inherits the mutated gene from both parents. Such cases can present with symptoms like mild anemia, jaundice, splenomegaly, or fatigue, although many cases are asymptomatic. Severe cases might also overlap with other conditions like hereditary pyropoikilocytosis, where red cells show further deformities, leading to more significant hemolysis. Hematological analysis and genetic testing confirm the diagnosis.