TN 8 (11-12)
DI 23022.931 Beta Thalassemia Major
COMPASSIONATE ALLOWANCE INFORMATION
BETA THALASSEMIA MAJOR
Beta Thalassemia Major Syndrome; Beta Thalassemia Major Disease; Thalassemia Major; Cooley Anemia; Cooley Anemia Disease; Cooley Anemia Syndrome; Erythroblastic Anemia of Childhood; Microcythemia Major; Mediterranean Anemia Major; Beta Zero Thalassemia
Beta Thalassemia Major (BT major) is a hereditary blood disorder where the bone marrow is unable to produce the beta chain of hemoglobin, resulting in chronic anemia and lowered ability of the blood to transport oxygen to cells. BT major is the most severe type of thalassemia (the other types are BT intermedia and BT minor.) BT major requires regular lifelong blood transfusions, and the affected individuals are considered to be “transfusion-dependent”. Over time, the chronic blood transfusions lead to a buildup of iron in the body (iron overload), and require iron chelation therapy.
DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING
Diagnostic testing: Complete Blood Count (CBC); reticulocyte counts; hemoglobin electrophoresis; quantitative hemoglobin A2; and quantitative hemoglobin F.
Physical findings: Poor growth/failure to thrive; often delayed puberty; pallor; jaundice (yellowish color of the skin or whites of the eyes); enlarged spleen, liver or heart; and skeletal abnormalities (especially the bones in the face).
ONSET AND PROGRESSION
Signs and symptoms of BT major usually occur within the first 2 years. Children develop life-threatening anemia, have failure to thrive, and may develop jaundice. People with BT major are prone to complications such as infection, and osteoporosis.
Chronic blood transfusions on a regular basis are required for BT major; iron chelation therapy once significant iron overload occurs; and folic acid supplements. Stem cell transplant is the only treatment that can cure BT. Without transplantation, death by age 20 is common.
SUGGESTED PROGRAMMATIC ASSESSMENT*
Suggested MER for evaluation:
Clinical history and examination that describes diagnostic features and physical findings.
Laboratory reports documenting hemoglobin levels and electrophoresis; iron studies to document iron overload or liver toxicity.
Genetic tests such as HLA typing may be done to evaluate for potential bone marrow transplantation, but are not required for diagnosis.
Suggested Listings for Evaluation:
Beta-Thalassemia Major with “Red blood cell transfusion-dependency” is consistent with listing level severity.
Reevaluate adult or child Beta-Thalassemia Major 1 year after bone marrow or stem cell transplantation.
* Adjudicators may, at their discretion, use the Medical Evidence of Record or Listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.