Hereditary elliptocytosis

Title

Categories:

Blood Diseases; Congenital and Genetic Diseases

Subtypes:

Pyropoikilocytosis hereditary

Summary Summary

Hereditary elliptocytosis (HE) refers to a group of inherited blood conditions where the red blood cells are abnormally shaped. Symptoms vary from very mild to severe and can include fatigue, shortness of breath, gallstones, and yellowing of the skin and eyes (jaundice).^[1]^[2] Some people with this condition have an enlarged spleen. Hereditary elliptocytosis is caused by a genetic change in either the EPB41, SPTA1, or SPTB gene, and is inherited in an autosomal dominant pattern.^[1] Hereditary pyropoikilocytosis is a related condition with more serious symptoms, and is inherited in an autosomal recessive pattern.[15369] Diagnosis of this condition is made by looking at the shape of the red blood cells under a microscope. Treatment is usually not necessary unless severe anemia occurs. In severe cases, surgery to remove the spleen may decrease the rate of red blood cell damage.^[2] HE is generally not life-threatening.

Last updated: 4/15/2019

Symptoms Symptoms

The symptoms of hereditary elliptocytosis may be different from person to person. Symptoms may appear at any age. Many people who have this condition have no symptoms at all. Most people with this condition have mild symptoms , while a few have more serious symptoms. Not everyone with hereditary elliptocytosis will have the same symptoms.

The most common signs and symptoms of hereditary elliptocytosis are:^[3]

• Anemia
-fatigue
-shortness of breath
• Gallstones
• Yellowing of the skin and eyes (jaundice)
• Enlarged spleen (splenomegaly)
• Very low blood levels after an infection (aplastic crisis)

Hydrops fetalis, an abnormal buildup of fluids in the body of a fetus, has been reported, as well as more serious anemia in early childhood.^[4]

Last updated: 4/16/2019

Cause Cause

Hereditary elliptocytosis is caused by a genetic change (mutations) in one of several different genes - SPTA1, SPTB, and EPB41.^[1] Hereditary pyropoikilocytosis, a related condition, is caused by two mutations in these genes.

Last updated: 4/16/2019

Diagnosis Diagnosis

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.^[3] Hereditary elliptocytosis is sometimes diagnosed by chance when other conditions are suspected.

Last updated: 4/16/2019

Treatment Treatment

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).^[4]

Last updated: 4/16/2019

Prognosis Prognosis

Hereditary elliptocytosis is generally mild and very rarely life threatening.^[2]^[4]

Last updated: 4/16/2019

Statistics Statistics

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.^[4]

Last updated: 4/16/2019

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Related Diseases Related Diseases

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include other acquired causes of elliptocytic or fragmented red cells (i.e. iron, vitamin B12 and folate deficiency, and microangiopathic hemolytic anemia), congenital dyserythropoietic anemia and alpha and beta thalassemia (see these terms). Visit the Orphanet disease page for more information.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to Hereditary elliptocytosis. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Iron Disorders Institute Inc.
P.O. Box 4891
Greenville, SC 29608
Fax: 864-292-1878
E-mail: info@irondisorders.org
Website: http://www.irondisorders.org/

Organizations Providing General Support

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Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.

In-Depth Information

Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
Hereditary Elliptocytosis
Pediatric Hereditary Elliptocytosis and Related Disorders
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

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References References

Elliptocytosis I, EL1. Online Mendelian Inheritance in Man (OMIM). Updated 5/1/2018; https://www.omim.org/entry/611804.
Narla J, Mohandas N. Red cell membrane disorders. Intl Jl Lab Hemotol. May 2017; 39 Suppl 1:47-52. https://www.ncbi.nlm.nih.gov/pubmed/28447420.
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. https://www.ncbi.nlm.nih.gov/pubmed/27667160.
Hereditary elliptocytosis. Orphanet. Apr 2014; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=288.