Hereditary elliptocytosis

Common Name(s)

Hereditary elliptocytosis

Hereditary elliptocytosis refers to a group of inherited blood conditions where the red blood cells are abnormally shaped. Symptoms can include fatigue, shortness of breath, gallstones, and yellowing of the skin and eyes (jaundice). Affected individuals can also have an enlarged spleen. Treatment is usually not necessary unless severe anemia occurs. Surgery to remove the spleen may decrease the rate of red blood cell damage.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hereditary elliptocytosis" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Hereditary elliptocytosis" returned 64 free, full-text research articles on human participants. First 3 results:

Spectrin Tunis (Sp alpha (I/78)) in a Korean family with hereditary elliptocytosis.
 

Author(s): Eunhee Han, Ahhyun Kim, Joonhong Park, Myungshin Kim, Yonggoo Kim, Kyungja Han, Yoo-Jin Kim

Journal: Ann Lab Med. 2013 Sep;33(5):386-9.

 

Last Updated: 4 Sep 2013

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The common hereditary elliptocytosis-associated α-spectrin L260P mutation perturbs erythrocyte membranes by stabilizing spectrin in the closed dimer conformation.
 

Author(s): Sandra L Harper, Sira Sriswasdi, Hsin-Yao Tang, Massimiliano Gaetani, Patrick G Gallagher, David W Speicher

Journal: Blood. 2013 Oct;122(17):3045-53.

 

Hereditary elliptocytosis (HE) and hereditary pyropoikilocytosis (HPP) are common disorders of erythrocyte shape primarily because of mutations in spectrin. The most common HE/HPP mutations are located distant from the critical αβ-spectrin tetramerization site, yet still interfere ...

Last Updated: 25 Oct 2013

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[Clinical characteristics of 5 patients with hereditary elliptocytosis].
 

Author(s): Neng Nie, Ying-qi Shao, Jun Shi, Mei-li Ge, Yi-zhou Zheng

Journal: Zhonghua Xue Ye Xue Za Zhi. 2013 Jun;34(6):540-1.

 

Last Updated: 5 Jul 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Hereditary elliptocytosis" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.