Hereditary elliptocytosis 2, 3

Hereditary elliptocytosis is a genetic disorder of the red blood cells (RBCs). In this condition, the RBCs become oval or elliptical in shape, which can lead to hemolytic anemia. There are several types of hereditary elliptocytosis, including hereditary elliptocytosis 2 and hereditary elliptocytosis 3.

Hereditary Elliptocytosis 2

Hereditary elliptocytosis 2 is a subtype of hereditary elliptocytosis caused by mutations in the EPB41 gene. This gene provides instructions for making a protein called protein 4.1, which is essential for maintaining the proper shape and flexibility of RBCs. Mutations in the EPB41 gene disrupt the normal structure and function of RBCs, leading to their elliptical shape and increased fragility.

Hereditary Elliptocytosis 3

Hereditary elliptocytosis 3 is another subtype of hereditary elliptocytosis, caused by mutations in the SPTA1 gene. This gene provides instructions for making a protein called alpha spectrin, which is a part of the cytoskeleton of RBCs. Mutations in the SPTA1 gene disrupt the normal structure and function of RBCs, leading to their elliptical shape and increased fragility.

Symptoms

The symptoms of hereditary elliptocytosis can vary widely, from mild to severe. They may include fatigue, shortness of breath, jaundice, gallstones, and an enlarged spleen. In severe cases, the condition can lead to life-threatening anemia.

Diagnosis

Hereditary elliptocytosis is typically diagnosed through a complete blood count (CBC) and a peripheral blood smear examination. Genetic testing can confirm the diagnosis and identify the specific gene mutation causing the condition.

Treatment

There is no cure for hereditary elliptocytosis. Treatment is typically aimed at managing symptoms and preventing complications. This may include blood transfusions, folic acid supplements, and in severe cases, removal of the spleen.

See Also

• Anemia
• Genetic disorders
• Red blood cell disorders