Hereditary elliptocytosis overview
Hereditary elliptocytosis Microchapters |
Differentiating Hereditary elliptocytosis from other Diseases |
---|
Diagnosis |
Treatment |
Case Studies |
Hereditary elliptocytosis overview On the Web |
American Roentgen Ray Society Images of Hereditary elliptocytosis overview |
Risk calculators and risk factors for Hereditary elliptocytosis overview |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Hereditary elliptocytosis is a red blood cell membrane disorder in which a large proportion of the erythrocytes (i.e. red blood cells) are elliptical rather than biconcave disc-shaped and it shortens RBC survival. It is also known as ovalocytosis. The main disorder in Hereditary elliptocytosis is cytoskeletal proteins defect,which influence the biconcave appearance of RBCs. patients with HE are usually asymptomatic however they present sometime hemolysis and haemolytic anaemia.
Historical Perspective
Classification
Pathophysiology
Hereditary elliptocytosis is commonly an autosomal dominant(AD) disorder, in which mutations in alpha-spectrin or beta-spectrin occur, that leads to quantity or structural defects of the cytoskeletal proteins in RBCs. Other cytoskeletal proteins such as glycophorin band 4.1 can also be mutated in this disease.
Another form of inheritance in HE is autosomal recessive ,it is called hereditary pyropoikilocytosis (HPP), and rarely spontaneous mutations have been reported.