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Archive » 2006 » 2 » | Archive » Medical field » Fields » Biophysics » Archive » Medical field » Fields » Internal Medicine »

Hereditary Elliptocytosis

 
Abstract:

This post is also available in: enEnglish slSlovenščina (Slovenian)

Hereditary elliptocytosis is a clinically, biochemically and genetically heterogeneous group of inherited disorders of red blood cells. It is characterised by the presence of elongated, oval or elliptically shaped erythrocytes on the peripheral blood smear. The elliptocytic pheno­type has been shown to result from various defects of proteins that constitute membrane skeletal network. This network and molecules that bind it to the lipid bilayer are responsible for the shape of red blood cell and the stability and deformability of its membrane. This article will concentrate on findings about molecular anatomy of erythrocyte membrane and membrane skeleton, mutations of genes for structural proteins of elliptocytic membrane skeleton and functional changes of these proteins and interactions among them, their influences on mechanical properties of the membrane and consequentially on the cellular shape.

Authors:
Zupan Anja

Keywords:
elliptocytosis heriditary, erythrocyte membrane, membrane proteins, erythrocyte deformability, point mutation

Cite as:
Med Razgl. 2006; 45: 155−63.

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