Hereditary elliptocytosis

Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic.

Hemolytic anemia

A type of anemia caused by premature destruction of red blood cells (hemolysis).


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PMID (PMCID)
20863723
 OTHER
Nonsense-mediated mRNA decay (NMD) blockage promotes nonsense mRNA stabilization in protein 4.1R deficient cells carrying the 4.1R Coimbra variant of hereditary elliptocytosis.
Moriniere M, Delhommeau F, Calender A, Ribeiro L, Delaunay J, Baklouti F.
Blood Cells Mol Dis. 2010;45(4):284-8.
This mutation is involved in a partial deficiency of 4.1R in the homozygous state in a patient with hereditary elliptocytosis and a moderated hemolytic anemia.