hereditary elliptocytosis
1.Hereditary elliptocytosis (HE) refers to a group of inherited blood conditions where the red blood cells are abnormally shaped. 2. Hereditary elliptocytosis is red cell membrane disorder charecterised by mutations in genes encoding membrane or skeletal proteins, that alters membrane function and reduces red cell deformability. 3.The genes mutated in HE are SPTA1,SPTB or protein 4.1r genes. 4. The red cell shape is classically elliptic, with different features from short stick shape to the shape more oblong on blood smear. 5 . It is inherited in a autosomal dominant pattern 1.These mutations have a common end result; they destabilize the cytoskeletal scaffold of cells . 2.This stability is especially important in erythrocytes as they are constantly under the influence of deforming shear forces. As disc-shaped erythrocytes pass through...