" /> Elliptocytosis 1 - CISMeF





Preferred Label : Elliptocytosis 1;

Symbol : EL1;

CISMeF acronym : EL1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Protein 4.1 of erythrocyte membrane, defect of; 4.1-minus trait; 4.1- trait; Elliptocytosis, rhesus-linked type;

Description : 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.;

Inheritance : Autosomal recessive; Autosomal dominant;

Molecular basis : Caused by mutation in the erythrocyte membrane protein band 4.1 gene (EPB41, 130500.0001);

Prefixed ID : #611804;

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28/07/2025


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