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BETA THALASSEMIA MAJOR
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ALTERNATE NAMES
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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
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DESCRIPTION
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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.
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DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND
ICD-9-CM/ICD-10-CM
CODING
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Diagnostic testing:
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Complete blood count (CBC);
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Hemoglobin electrophoresis;
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Quantitative hemoglobin A2; and
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Quantitative hemoglobin F.
Physical findings:
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Poor growth/failure to thrive;
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Jaundice (yellowish color of the skin or whites of the eyes);
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Enlarged spleen, liver or heart; and
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Skeletal abnormalities (especially the bones in the face).
ICD-9: 282.44
ICD-10: D56.1
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PROGRESSION
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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.
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TREATMENT
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Life-long blood transfusions at least once every six weeks 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.
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SUGGESTED PROGRAMMATIC ASSESSMENT*
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Suggested MER for Evaluation:
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Clinical history and examination that describes diagnostic features and physical findings;
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Laboratory reports documenting hemoglobin levels and electrophoresis; iron studies
to document iron overload or liver toxicity; and
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Genetic tests such as HLA typing may be done to evaluate for potential bone marrow
transplantation, but are not required for diagnosis.
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| Suggested Listings for
Evaluation: |
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DETERMINATION
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LISTING
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REMARKS
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Meets
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7.05 D
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Beta-Thalassemia Major with “Red blood cell transfusion-dependency” is consistent
with listing level severity.
Reevaluate adult Beta-Thalassemia Major 1 year after bone marrow or stem cell transplantation.
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7.17
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Beta-Thalassemia Major with “Red blood cell transfusion-dependency” is consistent
with listing level severity.
Reevaluate adult Beta-Thalassemia Major 1 year after bone marrow or stem cell transplantation.
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107.05 D
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Beta-Thalassemia Major with “Red blood cell transfusion-dependency” is consistent
with listing level severity.
Reevaluate child Beta-Thalassemia Major 1 year after bone marrow or stem cell transplantation.
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107.17
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Beta-Thalassemia Major with “Red blood cell transfusion-dependency” is consistent
with listing level severity.
Reevaluate child Beta-Thalassemia Major 1 year after bone marrow or stem cell transplantation.
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| Equals |
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| * Adjudicators may, at their discretion, use the Medical Evidence of Record or the
listings suggested to evaluate the claim. However, the decision to allow or deny the
claim rests with the adjudicator.
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