Hereditary elliptocytosis overview
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Differentiating Hereditary elliptocytosis from other Diseases |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Hereditary elliptocytosis is one of 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
RBC anomaly in Hereditary elliptocytosis was first observed in 1860 by Goltz, [2]and Elliptocytosis, elliptical shape of RBCs was described in 1904 by Dresbach. [3] Bishop recognized the familial inheritance as autosomal dominant of HE in 1914 and Hunter and Adams affirmed it's hereditary condition in 1929.[2] Recent studies demonstrate that, the severity of symptoms in patients with Hereditary elliptocytosis is variable and it can be related to genetic variations.[4]
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.[5]
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
Hereditary elliptocytosis is one of the most common RBC membrane disorders worldwide,and the incidence of HE is 25-50 per 100,000 individuals.
The prevalence of Hereditary elliptocytosis is 50 out of 100,000 affected cases in Northern European countries and North America.[1]
In endemic areas for malaria,the incidence of HE is notably higher, this incidence ranges from a low of 600 per 100,000 persons in equatorial Africa to a high of 30,000 per 100,000 persons in Malayan aborigines.
This large number of prevalence is because of relative resistance of elliptocytes against malaria in the endemic areas.
As many patients with HE are asymptomatic, the true incidence is not known.[6]
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 1.2 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.
- ↑ 2.0 2.1 "Hereditary elliptocytic anaemia" (PDF).
- ↑ Dresbach M (1904). "ELLIPTICAL HUMAN RED CORPUSCLES". Science. 19 (481): 469–70. doi:10.1126/science.19.481.469. PMID 17730874.
- ↑ Tse WT, Lux SE (1999). "Red blood cell membrane disorders". Br J Haematol. 104 (1): 2–13. PMID 10027705. Check
|pmid=value (help). - ↑ 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.
- ↑ Keklik M, Unal A, Sivgin S, Kontas O, Eroglu E, Yilmaz S; et al. (2014). "The coincidence of familial mediterranean Fever and hypereosinophilia in a patient with hereditary elliptocytosis". Indian J Hematol Blood Transfus. 30 (Suppl 1): 138–41. doi:10.1007/s12288-013-0296-6. PMC 4192255. PMID 25332561.