Hereditary Elliptocytosis

Excerpt

Hereditary elliptocytosis, or hereditary ovalocytosis, is an inherited heterogeneous red blood cell (RBC) disorder characterized by elongated, oval, or elliptical-shaped RBCs on the peripheral blood smear. Genetic alterations in α-spectrin, β-spectrin, protein 4.1, band 3, and, rarely, glycophorin C result in the loss of the normal elastic recoil property in RBCs within the peripheral circulation, resulting in their distinctive elliptical shape.

The spleen plays a crucial role in the manifestation of the disorder, as it captures and eliminates these abnormal elliptocytes, ultimately causing hemolytic anemia. Elliptocytosis was first described by Dresbach in 1904, and its hereditary nature was firmly established by Hunter.

Hereditary elliptocytosis encompasses various subtypes, each with distinct characteristics. These subtypes include common hereditary elliptocytosis, hereditary pyropoikilocytosis (HPP), Southeast Asian ovalocytosis (SAO), and spherocytic elliptocytosis (SE). The differentiation among these subtypes lies in variations in RBC morphology and the degree of hemolysis.

The majority of individuals with hereditary elliptocytosis are asymptomatic and, therefore, do not necessitate any specific treatment. However, for symptomatic patients, effective management may involve interventions such as blood transfusions and splenectomy. These approaches aim to address and alleviate the symptoms associated with the condition.