Hereditary elliptocytosis overview
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Hereditary elliptocytosis is the most common 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.[1]
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 and band 4.1 can also be mutated in this disease.[2]
Another form of inheritance in HE is autosomal recessive (AR) ,it is called hereditary pyropoikilocytosis (HPP), and rarely spontaneous mutations have been reported.[1]
Causes
Differentiating Hereditary elliptocytosis overview from Other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications, and Prognosis
Natural History
Complications
Prognosis
Diagnosis
Diagnostic Criteria
History and Symptoms
Physical Examination
Laboratory Findings
Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Surgery
Prevention
References
- ↑ 1.0 1.1 Da Costa L, Galimand J, Fenneteau O, Mohandas N (2013). "Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders". Blood Rev. 27 (4): 167–78. doi:10.1016/j.blre.2013.04.003. PMID 23664421.
- ↑ Harper SL, Sriswasdi S, Tang HY, Gaetani M, Gallagher PG, Speicher DW (2013). "The common hereditary elliptocytosis-associated α-spectrin L260P mutation perturbs erythrocyte membranes by stabilizing spectrin in the closed dimer conformation". Blood. 122 (17): 3045–53. doi:10.1182/blood-2013-02-487702. PMC 3811177. PMID 23974198.