Discovering Hereditary Elliptocytosis during the Assessment of Chronic Kidney Disease: A Case Report

Abstract

Hereditary elliptocytosis is a genetic disorder characterized by elliptically shaped red blood cells (RBCs). It arises due to gene mutations that encode key structural proteins of the RBC membrane, such as spectrin, ankyrin, or band 3. The resulting RBC shape abnormalities can lead to variable degrees of hemolysis, resulting in anemia and jaundice. Diagnosis involves a combination of clinical evaluation, peripheral blood smear examination, and specialized laboratory tests like osmotic fragility testing or genetic analysis. Management strategies primarily focus on addressing symptoms and complications, including folic acid supplementation, blood transfusions in severe cases, and splenectomy in selected instances. Here we present a case of hereditary elliptocytosis in a 34-year-old female whose diagnosis was incidentally made during her admission for chronic kidney disease in a district hospital. The findings of anaemia, in this case, might be attributed to chronic kidney disease. The findings of gallstones point towards the possibility that she could be having chronic haemolysis secondary to hereditary elliptocytosis. This poses challenges in diagnosing and managing this case, especially in a district hospital with limited laboratory investigations and resources.

Keywords

Hereditary elliptocytosis, red cell disorders, elliptocytes, haemolytic anemia