Hemoglobin c disease

Hemoglobin C disease is a blood disorder that affects the red blood cells, which carry oxygen in the body. This condition is a type of sickle cell disease, which means it affects the shape and functionality of the red blood cells. Hemoglobin C disease is caused by a mutation in the HBB gene, which provides instructions for making a protein called beta-globin. Beta-globin is a component of hemoglobin, the protein in red blood cells that carries oxygen.

Causes

Hemoglobin C disease is caused by a mutation in the HBB gene. This mutation changes a single amino acid in beta-globin. Specifically, the amino acid glutamic acid is replaced by the amino acid lysine at position 6. This small change makes the hemoglobin more likely to stick together, particularly under low-oxygen conditions, forming abnormal hemoglobin C crystals that distort the shape of the red blood cells.

Symptoms

The symptoms of Hemoglobin C disease can vary widely among individuals. Some people may have only mild symptoms or no symptoms at all, while others may experience more severe symptoms. Common symptoms can include anemia, jaundice, and an enlarged spleen. In some cases, individuals with Hemoglobin C disease may also develop gallstones.

Diagnosis

Hemoglobin C disease is typically diagnosed through blood tests that look for abnormal hemoglobin. A test called hemoglobin electrophoresis can be used to identify the abnormal hemoglobin C. In some cases, a DNA test may also be used to confirm the diagnosis.

Treatment

There is currently no cure for Hemoglobin C disease. Treatment is focused on managing symptoms and preventing complications. This may include regular blood transfusions, medications to manage pain and prevent infections, and in some cases, a splenectomy (surgery to remove the spleen).

See also

• Hemoglobin
• Sickle cell disease
• HBB gene
• Anemia
• Jaundice