How do you manage thalassemia in an adult patient?

Management of Thalassemia in Adults

Adult thalassemia management centers on regular blood transfusions to maintain hemoglobin 9-10 g/dL pre-transfusion and 13-14 g/dL post-transfusion, combined with immediate iron chelation therapy to prevent life-threatening organ damage from iron overload. 1

Transfusion Strategy

Initiate regular transfusions every 3-4 weeks to maintain pre-transfusion hemoglobin at 9-10 g/dL and post-transfusion levels at 13-14 g/dL. 1 This target suppresses ineffective erythropoiesis and prevents the cascade of complications from chronic anemia. 1, 2

• Monitor hemoglobin levels every 2 weeks during stable periods, more frequently if complications arise. 1
• Use leukoreduced blood products to minimize alloimmunization risk. 3
• Perform red blood cell antigen testing (including CcEe and Kell) to reduce alloimmunization, which can severely limit future transfusion availability. 3

Iron Chelation Therapy

Start iron chelation immediately upon initiating regular transfusions—do not wait for iron overload to develop. 1 Iron accumulation begins with the first transfusion and causes irreversible organ damage if left unchecked.

Chelation Options:

• Deferasirox (oral): Monitor for renal toxicity (serum creatinine increases >33% above baseline), hepatotoxicity (transaminases >5x ULN), and gastrointestinal symptoms. 4
• Deferiprone (oral): Use with caution due to neutropenia risk; avoid during concurrent antiviral therapy. 5, 6
• Deferoxamine (IV/subcutaneous): Preferred during antiviral treatment or in cardiac emergencies. 6

Monitoring Iron Burden:

• Measure liver iron concentration (LIC) via MRI to guide chelation intensity. 1
• Target serum ferritin <1000 mcg/L, though MRI is more accurate than ferritin alone. 5

Organ Surveillance and Complication Prevention

Cardiac Monitoring (Critical Priority):

Perform cardiac MRI T2 and echocardiography annually—cardiac iron overload is the leading cause of death in thalassemia.* 1, 2

• If cardiac T2* <10 ms or ejection fraction declines, initiate intensive combined chelation with continuous IV deferoxamine 50 mg/kg/day plus deferiprone 75 mg/kg/day. 1
• Exclude patients with decompensated myocardiopathy or severe arrhythmias from certain treatments (e.g., antiviral therapy). 5, 6
• Critical pitfall: Cardiac complications can present atypically (e.g., seizures from low cardiac output); maintain high suspicion and obtain urgent echocardiography if any concerning symptoms arise. 1

Hepatic Monitoring:

• Liver function tests every 3 months. 1
• Screen for hepatitis B and C at baseline and periodically, as transfusion-transmitted infections remain a risk. 1, 3
• If HCV positive: Consider Peg-interferon plus ribavirin (24 weeks for genotypes 2/3,48 weeks for genotypes 1/4), but anticipate 30-40% increase in transfusion requirements. 5
• Switch to deferoxamine during antiviral treatment rather than continuing deferiprone or deferasirox. 6

Endocrine Screening:

• Annual screening for diabetes mellitus, thyroid dysfunction, and hypogonadism. 1
• Iron deposition in endocrine organs causes progressive dysfunction despite adequate chelation. 2

Auditory and Ophthalmologic Monitoring:

• Baseline and annual auditory testing and slit lamp examinations. 4
• Deferasirox can cause high-frequency hearing loss and lens opacities; reduce dose or interrupt if abnormalities develop. 4

Special Considerations for Adults

Bone Marrow Transplantation:

• Consider in younger adults (<35 years) with HLA-identical sibling donors, though transplant-related mortality remains 27-37% in adults due to advanced disease and organ damage. 7
• Optimize iron chelation before transplant to reduce non-relapse mortality. 5, 7

Medication Interactions:

• Avoid erythropoietin during antiviral therapy—it provides no benefit and increases adverse events. 6
• Monitor for drug-induced hepatotoxicity when using multiple medications (chelators, antivirals, cardiac drugs). 5

Common Pitfalls to Avoid

1. Delaying chelation therapy: Iron overload begins immediately with transfusions; waiting for ferritin elevation allows irreversible organ damage. 1

2. Undertransfusing to "reduce iron load": Maintaining hemoglobin <9 g/dL worsens ineffective erythropoiesis, increases iron absorption, and accelerates complications. 1, 2

3. Missing cardiac complications: Cardiac iron overload can present with non-specific symptoms (fatigue, seizures); maintain low threshold for cardiac imaging. 1

4. Inadequate monitoring during antiviral therapy: Ribavirin causes hemolysis requiring 30-40% more transfusions; failure to increase transfusion frequency worsens anemia and iron overload. 5

5. Using deferasirox without monitoring renal function: Serum creatinine increases occur in 38% of patients; check every 2-4 weeks initially. 4