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Disease Profile

Hereditary elliptocytosis

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-5 / 10 000

33,100 - 165,500

US Estimated

1-5 / 10 000

51,350 - 256,750

Europe Estimated

Age of onset

All ages

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ICD-10

D58.1

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Categories

Blood Diseases; Congenital and Genetic Diseases

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.

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]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
30%-79% of people have these symptoms
Elliptocytosis
0004445
Increased red cell osmotic fragility
0005502
5%-29% of people have these symptoms
Congenital hemolytic anemia
0004804
Neonatal hyperbilirubinemia
0003265
Prolonged neonatal jaundice
Prolonged yellowing of skin in newborn
0006579
Reticulocytosis
Increased immature red blood cells
Increased number of immature red blood cells

[ more ]

0001923
Splenomegaly
Increased spleen size
0001744
Stomatocytosis
0004446
1%-4% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain

[ more ]

0002027
Chills
0025143
Cholelithiasis
Gallstones
0001081
Fever
0001945
Frontal bossing
0002007
Hydrops fetalis
0001789
Postnatal growth retardation
Growth delay as children
0008897

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.

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.

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]

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

    Organizations Providing General Support

        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.

            References

            1. Elliptocytosis I, EL1. Online Mendelian Inheritance in Man (OMIM). Updated 5/1/2018; https://www.omim.org/entry/611804.
            2. 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.
            3. 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.
            4. Hereditary elliptocytosis. Orphanet. Apr 2014; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=288.

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