Elliptocytosis type 2 (EL2) - SPTA1 gene
Elliptocytosis 2 (EL2) is a genetically heterogeneous hematologic autosomal dominant disease. It is characterized by hemolytic anemia and variable - elliptical or oval shape erythrocytes.
This process is due to mutations in the gene SPTA1, located on the long arm of chromosome 1 (1q21). This gene encodes the alpha chain of spectrin, which is in the erythrocyte membrane. This protein is the main constituent of the underlying network to the plasma membrane of erythrocytes cytoskeleton. It is associated with the band 4.1 and actin to form the superstructure of the cytoskeleton of the plasma membrane of erythrocytes. Red blood cells have to be flexible to circulate through the arteries and capillaries. This protein allows the cell to change shape as it passes through the narrow capillaries.
Mutations in the gene SPTA1 lead to an excessively rigid and deformed cell. Instead of a flattened disk shape, these cells are spherical. Dysfunctional proteins interfere with the ability of the cell to change shape when flowing through blood vessels.
This disease is inherited as an autosomal dominant, which means that a copy of the altered gene in each cell is sufficient for the disease to be expressed. In most cases, an affected person has a parent with the disease.
Tests performed in IVAMI: in IVAMI perform detection of mutations associated with elliptocytosis 2 by the complete PCR amplification of the exons of the gene SPTA1, and subsequent sequencing.
Samples recommended: EDTA blood collected for separation of blood leukocytes, or impregnated sample card with dried blood (IVAMI may mail the card to deposit the blood sample).