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Hereditary elliptocytosis

Hereditary elliptocytosis (HE) is associated with an autosomal dominant inheritance pattern and is not associated with anemia in most cases. HE results from defects in RBC structural proteins that mediate horizontal interaction in the RBC cytoskeleton.
HE results from defects in RBC structural proteins



In most patients, the molecular defect resides in the α or β spectrin gene and interferes with the normal polymerization of spectrin molecules. In addition, mutation of genes encoding protein 4.1 and glycophorin C can also generate the elliptocytic phenotype.




Compound heterozygosity for qualitative mutations that cause HE and quantitative mutations of α spectrin gene are associated with a severe hemolytic disorder called hereditary pyropoikilocytosis. Southeast Asian ovalocytosis, also known as Melanesian elliptocytosis, is widespread in certain ethnic groups of Malaysia, Papua New Guinea, Philippines, and Indonesia and is caused by a band 3 gene mutation.

Clinical presentation

The clinical features and natural history of HE are similar to those of Hereditary spherocytosis (HS), including marked variability in the severity of hemolysis depending on the specific mutation; however, unlike in HS, most subjects with HE are asymptomatic.

Treatment

For most individuals, no therapy is needed. In those with severe hemolysis, splenectomy may ameliorate but does not cure the hemolytic anemia. In rare cases with severe hemolysis, occasional red blood cell transfusions may be required.



Reference
https://rarediseases.info.nih.gov/diseases/6621/hereditary-elliptocytosis
https://www.msdmanuals.com/professional/hematology-and-oncology/anemias-caused-by-hemolysis/hereditary-spherocytosis-and-hereditary-elliptocytosis
https://www.enerca.org/anaemias/57/hereditary-elliptocytosis
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=288
https://www.uptodate.com/contents/hereditary-elliptocytosis-and-related-disorders
https://www.cancertherapyadvisor.com/home/decision-support-in-medicine/hematology/hereditary-elliptocytosis-and-hereditary-pyropoikilocytosis/
https://path.upmc.edu/cases/case623/dx.html
http://www.sah.org.ar/pdf/eritropatias/CADAE1405C.pdf

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