Hereditary elliptocytosis

What is the cause of hereditary elliptocytosis?

Hereditary elliptocytosis is caused by a genetic change (mutations) in one of several different genes - SPTA1 , SPTB , and EPB41. Hereditary pyropoikilocytosis, a related condition, is caused by two mutations in these genes.

Last updated on 05-01-20

How is hereditary elliptocytosis diagnosed?

Hereditary elliptocytosis can be diagnosed by looking at the shape of the red blood cells under the microscope (blood smear). Genetic testing can help as well. Hereditary elliptocytosis is sometimes diagnosed by chance when other conditions are suspected.

Last updated on 05-01-20

What is the long term outlook for people with hereditary elliptocytosis?

Hereditary elliptocytosis is generally mild and very rarely life threatening.

Last updated on 05-01-20

How many people have hereditary elliptocytosis?

Hereditary elliptocytosis occurs in about 1-5 in 10,000 people. It is more common in parts of the world where malaria is more common.

Last updated on 05-01-20

How might hereditary elliptocytosis be treated?

Treatment for hereditary elliptocytosis is often not necessary. When symptoms are severe enough, some people with this condition will be treated with transfusion or even removal of the spleen (splenectomy).

Last updated on 05-01-20

Name: Iron Disorders Institute Inc. P.O. Box 4891
Greenville, SC, 29608, United States
Fax : 864-292-1878 Email: Url:
Name: National Heart, Lung and Blood Institute NHLBI P.O. Box 30105
Bethesda, MD, 20854-0105,
Phone: 301-592-8573 Email: Url:
Niss O, Chonat S, Dagaaonkar N, Almansoori MO, et al. Genotype-Phenotype Correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis Blood Cells Mol Dis. Oct 2016; 61. 4-9. Reference Link Elliptocytosis I, EL1 Online Mendelian Inheritance in Man (OMIM). Updated 5/1/2018; Reference Link Narla J, Mohandas N. Red cell membrane disorders Intl Jl Lab Hemotol. May 2017; 39 Suppl 1. 47-52. Reference Link Hereditary elliptocytosis Orphanet. Apr 2014; Reference Link

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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