Beta thalassemia

Beta Thalassemia is a genetic disorder that affects the production of hemoglobin, a protein in red blood cells that carries oxygen throughout the body. This condition is characterized by a deficiency in the production of beta-globin, a component of hemoglobin.

Causes

Beta Thalassemia is caused by mutations in the HBB gene, which provides instructions for making beta-globin. These mutations can be inherited from both parents, in which case the condition is known as beta thalassemia major or Cooley's anemia. If the mutation is inherited from only one parent, the condition is known as beta thalassemia minor or beta thalassemia trait.

Symptoms

The symptoms of beta thalassemia vary depending on the severity of the condition. In cases of beta thalassemia major, symptoms may include severe anemia, failure to thrive, and enlarged spleen (splenomegaly). Individuals with beta thalassemia minor may have mild anemia but are often asymptomatic.

Diagnosis

Beta Thalassemia is typically diagnosed through blood tests that measure the amount and type of hemoglobin in the blood. Genetic testing may also be used to confirm the diagnosis and identify the specific mutations in the HBB gene.

Treatment

Treatment for beta thalassemia depends on the severity of the condition. For individuals with beta thalassemia major, regular blood transfusions and iron chelation therapy to remove excess iron from the body may be necessary. In some cases, a bone marrow transplant may be considered.

See Also

• Alpha Thalassemia
• Hemoglobinopathy
• Genetic Disorders
• Anemia