Hereditary Elliptocytosis

Abstract

Hereditary elliptocytosis (HE) is a group of disorders characterized by the presence of elliptical-shaped erythrocytes on peripheral blood smear. Hereditary elliptocytosis and its related disorders are characterized by clinical, biochemical, and genetic heterogeneity. Manifestations range from the asymptomatic carrier state to severe, transfusion dependent hemolytic anemia. Abnormalities of various membrane protein defects contribute to mechanical defects of the erythrocyte membrane skeleton. We present a rare case of HE, an incidental finding without any clinical symptoms related to it. We also discuss on pathophysiology and being.

Familial genotypic and phenotypic heterogeneity and its implications on genetic counseling exemplified in two cases of hereditary pyropoikilocytosis/erythrocytic spectrin‐linked hemolytic anemia masquerading as congenital dyserythropoietic anemia

“…HPP is an autosomal recessive subtype of hereditary elliptocytosis. Previously thought to be uncommon in India, multiple isolated case reports of elliptocytosis throughout the country [9][10][11] suggest that it may be underdiagnosed. Our two cases represent the first molecularly confirmed cases of HPP/spectrin-linked hemolytic anemia from India.…”