Delta-thalassemia

Delta-thalassemia is a form of thalassemia, a group of inherited blood disorders that affect the body's ability to produce hemoglobin, the protein in red blood cells that carries oxygen to the body's tissues. Delta-thalassemia is caused by mutations in the HBD gene, which provides instructions for making a component (subunit) of hemoglobin called delta-globin.

Causes

Delta-thalassemia is caused by mutations in the HBD gene. This gene provides instructions for making a protein called delta-globin, which is a component of a type of hemoglobin called hemoglobin A2. Hemoglobin A2 is a minor form of hemoglobin that is normally present in small amounts in red blood cells. Mutations in the HBD gene reduce or eliminate the production of delta-globin, which disrupts the normal formation of hemoglobin and leads to the signs and symptoms of delta-thalassemia.

Symptoms

The symptoms of delta-thalassemia can vary widely, depending on the severity of the condition. Some people with delta-thalassemia have no symptoms, while others may experience mild to moderate anemia, a condition characterized by a shortage of red blood cells. Anemia can lead to fatigue, weakness, and pale skin. In severe cases, delta-thalassemia can cause more serious health problems, such as heart disease and liver disease.

Diagnosis

Delta-thalassemia is diagnosed through a combination of blood tests, genetic testing, and sometimes bone marrow tests. Blood tests can reveal anemia and other abnormalities that are characteristic of thalassemia. Genetic testing can identify mutations in the HBD gene that cause delta-thalassemia.

Treatment

There is currently no cure for delta-thalassemia. Treatment is aimed at managing symptoms and preventing complications. This may include regular blood transfusions, iron chelation therapy to remove excess iron from the body, and other supportive treatments. In some cases, a bone marrow transplant may be an option.

See also

• Alpha-thalassemia
• Beta-thalassemia
• Hemoglobinopathy