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 capillaries, which can be 2-3 micrometers wide, they are forced to assume an elliptical shape in order to fit through. Normally, this deformation lasts only as long as a cell is present in a capillary, but in hereditary elliptocytosis the instability of the cytoskeleton means that erythrocytes deformed by passing through a capillary are forever rendered elliptical. These elliptical cells are taken up by the spleen and removed from circulation when they are younger than they would normally be, meaning that the erythrocytes of people with hereditary elliptocytosis have a shorter than average life-span (a normal person's erythrocytes average 120 days or more). 
The most common genetic defects (two third of all cases of HE ) are in genes for poly peptides alpha and beta spectrin.
These  two polypeptides combine to form spectrin tetramers that are the basic structural sub unit of cytoskeleton of all cells in the body.
Individuals with a single mutation in one of the spectrin genes are usually asymptomatic but those who are  homozygotes have sufficient cell membrane instability.
EL1: Less common than spectrin mutations are band 4.1 mutations. Spectrin tetramers must bind to actin in order to create a proper cytoskeleton scaffold, and band 4.1 is an important protein involved in the stabilization of the link between spectrin and actin. Similarly to the spectrin mutations, band 4.1 mutations cause a mild haemolytic anaemia in the heterozygous state, and a severe haemolytic disease in the homozygous state.
EL4: Southeast Asian ovalocytosis is associated with the Band 3 protein.
Another group of mutations that lead to elliptocytosis are those that cause glycophorin C deficiencies.
Glycophorin C has the function of holding band 4.1 to the cell membrane. It is thought that elliptocytosis in glycophorin C deficiency is actually the consequence of a band 4.1 deficit, as glycophorin C deficient individuals also have reduced intracellular band 4.1 (probably due to the reduced number of binding sites for band 4.1 in the absence of glycoprotein C).

SYMPTOMS
The symptoms of hereditary elliptocytosis may be different from person to person.

 
Symptoms may appear at any age. Many  people are asymptomatic and the symptoms in people may vary from person to person.
These symptoms may be mild and severe.
The most common signs and symptoms of hereditary elliptocytosis are:

• Anemia
-fatigue
-shortness of breath
• Gallstones
• Yellowing of the skin and eyes (jaundice)
• Enlarged spleen (splenomegaly)
• Very low blood levels after an infection (aplastic crisis) 

DIAGNOSIS
Hereditary elliptocytosis can be diagnosed by looking at the shape of the red blood cells under the microscope (blood smear). Genetic testing can help as well.
In general it requires that atleast 25% of RBCs in the specimen  are abnormally elliptical in shape, though observed percentage of elliptocytes can be 100%.
Definitive diagnosis involve osmotic fragility testing, autohaemolysis test and direct protein essaying by gel electrophoresis. 

Treatment
The vast majority of those with hereditary elliptocytosis require no treatment whatsoever.
 Folate helps to reduce the extent of haemolysis in those with significant haemolysis due to hereditary elliptocytosis.
Removal of the spleen (splenectomy) is effective in reducing the severity of these complications, but is associated with an increased risk of overwhelming bacterial septicaemia, and is only performed on those with significant complications.

Those with HE have a very good prognosis  as it is mild and rarely life threatening. 




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