Elliptocytosis 1

Common Name(s)

Elliptocytosis 1

Elliptocytosis is a hematologic disorder characterized by elliptically shaped erythrocytes and a variable degree of hemolytic anemia. Usually inherited as an autosomal dominant trait, elliptocytosis results from mutation in any one of several genes encoding proteins of the red cell membrane skeleton (summary by {24:McGuire et al., 1988}). Genetic Heterogeneity of Elliptocytosis Elliptocytosis-2 ({130600}) is caused by mutation in the SPTA1 gene ({182860}). Elliptocytosis-3 ({617948}) is caused by mutation in the SPTB gene ({182870}). Elliptocytosis-4 ({166900}), also known as Southeast Asian ovalocytosis, is caused by mutation in the SLC4A1 gene ({109270}). Also see pyropoikilocytosis ({266140}). See {11:Delaunay (2007)} for a discussion of the molecular basis of hereditary red cell membrane disorders.
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Advocacy and Support Organizations

 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Elliptocytosis 1" 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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Recommended Apps

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Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

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Relief is when you and the right researcher find each other

Finding the right clinical trial for Elliptocytosis 1 can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.

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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 "Elliptocytosis 1" returned 14 free, full-text research articles on human participants. First 3 results:

Elliptocytosis in patients with C-terminal domain mutations of protein 4.1 correlates with encoded messenger RNA levels rather than with alterations in primary protein structure.
 

Author(s): M Morinière, L Ribeiro, N Dalla Venezia, M Deguillien, P Maillet, T Cynober, F Delhommeau, H Almeida, G Tamagnini, J Delaunay, F Baklouti

Journal: Blood. 2000 Mar;95(5):1834-41.

 

Early biochemical studies defined 4 functional domains of the erythroid protein 4.1 (4.1R). From amino-terminal to carboxy-terminal, these are 30 kd, 16 kd, 10 kd, and 22/24 kd in size. Although the functional properties of both the 30-kd and the 10-kd domain have been demonstrated ...

Last Updated: 31 Dec 1969

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An isoform-specific mutation in the protein 4.1 gene results in hereditary elliptocytosis and complete deficiency of protein 4.1 in erythrocytes but not in nonerythroid cells.
 

Author(s): J G Conboy, J A Chasis, R Winardi, G Tchernia, Y W Kan, N Mohandas

Journal: J. Clin. Invest.. 1993 Jan;91(1):77-82.

 

Multiple protein 4.1 isoforms are expressed in a variety of tissues through complex alternative pre-mRNA splicing events, one function of which is to regulate use of two alternative translation initiation signals. Late erythroid cells express mainly the downstream initiation site ...

Last Updated: 31 Dec 1969

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Homozygous 4.1(-) hereditary elliptocytosis associated with a point mutation in the downstream initiation codon of protein 4.1 gene.
 

Author(s): N Dalla Venezia, F Gilsanz, N Alloisio, M T Ducluzeau, E J Benz, J Delaunay

Journal: J. Clin. Invest.. 1992 Nov;90(5):1713-7.

 

We studied a 43 yr-old Spanish patient with homozygous 4.1(-) hereditary elliptocytosis. Any form of protein 4.1 was missing in the red cells. Spectrin and actin were slightly, yet significantly, diminished. Alterations appeared at the level of proteins 4.5 and 4.9. Glycophorin C ...

Last Updated: 31 Dec 1969

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PubMed Article Results at NCBI: 14 article(s)

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Elliptocytosis 1" returned 0 free, full-text review articles on human participants.

No free, full-text review articles on human participants are available at this time. Please click this link to visit the PubMed website for results on "Elliptocytosis 1".

 
 
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Symptoms, Diagnosis, and Treatment

This information is provided by Genetics Home Reference.
https://ghr.nlm.nih.gov/gene/EPB41
https://ghr.nlm.nih.gov/gene/AMMECR1
https://ghr.nlm.nih.gov/gene/SPTB
https://ghr.nlm.nih.gov/gene/EPB42
https://ghr.nlm.nih.gov/gene/SPTA1
https://ghr.nlm.nih.gov/chromosome/1
https://ghr.nlm.nih.gov/gene/SNORD115-1
https://ghr.nlm.nih.gov/gene/NKX2-1
https://ghr.nlm.nih.gov/condition/distal-arthrogryposis-type-1
https://ghr.nlm.nih.gov/condition/type-1-diabetes
https://ghr.nlm.nih.gov/condition/alpha-1-antitrypsin-deficiency
https://ghr.nlm.nih.gov/condition/atelosteogenesis-type-1
https://ghr.nlm.nih.gov/condition/aminoacylase-1-deficiency
https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-1
https://ghr.nlm.nih.gov/condition/neurofibromatosis-type-1
https://ghr.nlm.nih.gov/condition/otopalatodigital-syndrome-type-1
https://ghr.nlm.nih.gov/condition/optic-atrophy-type-1
https://ghr.nlm.nih.gov/condition/pseudohypoaldosteronism-type-1
https://ghr.nlm.nih.gov/gene/NOTCH2
https://ghr.nlm.nih.gov/condition/combined-oxidative-phosphorylation-deficiency-1
Full Results at Genetics Home Reference: 1891 matches

There are currently no related results available in GeneReviews.

This information is provided by Genetic Testing Registry.
http://www.ncbi.nlm.nih.gov/gtr/conditions/C2678497
 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.

According to ClinicalTrials.gov there are currently 0 additional "open" studies for "Elliptocytosis 1" (open studies are recruiting volunteers) and 0 "Elliptocytosis 1" studies with "all" status. Visit ClinicalTrials.gov now to view them. Or alternatively, consider TrialsFinder for assistance:
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Relief is when you and the right researcher find each other
Finding the right clinical trial for Elliptocytosis 1 can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.
Learn More