Beta thalassemia

This code represents a severe, inherited blood disorder characterized by a significant reduction or absence of beta globin chain synthesis, leading to ineffective erythropoiesis and chronic hemolytic anemia. Patients typically present with severe anemia requiring lifelong blood transfusions and often develop iron overload.

Use this code for patients diagnosed with beta thalassemia major, also known as Cooley's anemia, based on genetic testing and clinical presentation. Documentation should clearly indicate the severe form of beta thalassemia, distinguishing it from milder variants or traits.

• Carefully review documentation to differentiate beta thalassemia major from beta thalassemia minor or trait, which are excluded.
• Do not use this code if the patient has delta-beta thalassemia or hemoglobin E-beta thalassemia; these have specific exclusion codes.
• Code any associated complications, such as iron overload (hemochromatosis) or splenomegaly, in addition to the thalassemia.