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, elliptocytosis results from mutation in any one of several genes encoding proteins of the red cell membrane skeleton. Elliptocytosis-1 was found in the 1950s to be linked to the Rh blood group (see {111700}) and is caused by a defect in protein 4.1.
 

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Condition Specific Organizations

Following organizations serve the condition "Elliptocytosis 1" for support, advocacy or research.

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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 13 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: 29 Mar 2000

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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: 24 Feb 1993

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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: 22 Dec 1992

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Reviews from the PubMed Database

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The terms "Elliptocytosis 1" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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