What is the management plan for a patient with beta thalassemia?

Management of Beta Thalassemia

Beta thalassemia major requires lifelong regular blood transfusions every 3-4 weeks maintaining pre-transfusion hemoglobin at 9-10 g/dL with immediate concurrent iron chelation therapy to prevent fatal cardiac complications from iron overload. 1

Transfusion Protocol

Initiate regular transfusions immediately upon diagnosis to suppress ineffective erythropoiesis and prevent complications: 1

• Target pre-transfusion hemoglobin: 9-10 g/dL 2, 1
• Target post-transfusion hemoglobin: 13-14 g/dL 2, 1
• Transfusion frequency: Every 3-4 weeks 1
• This moderate transfusion regimen (9-10 g/dL baseline) reduces iron loading compared to hypertransfusion protocols while effectively suppressing erythropoiesis 3
• Each unit of blood contains 200-250 mg of iron with no physiological excretion mechanism 1

Iron Chelation Therapy

Start iron chelation immediately when regular transfusions are established—this is non-negotiable for survival: 1

First-Line Chelation Options:

• Deferoxamine: 50 mg/kg/day subcutaneously 5-7 nights per week 1
• Deferiprone: 75 mg/kg/day orally (use with caution due to neutropenia risk) 2, 1
• Deferasirox: Starting dose 20-30 mg/kg/day based on liver iron concentration 1

Critical Chelation Considerations:

• Target serum ferritin <1000 mcg/L, though MRI liver iron concentration is more accurate than ferritin alone 1
• Switch to deferoxamine during antiviral treatment for hepatitis C to avoid compounding neutropenia risk from deferiprone 2
• Monitor serum ferritin every 3 months as a trend marker 1

Cardiac Monitoring and Management

Cardiac iron overload accounts for approximately 70% of deaths in thalassemia—aggressive surveillance is mandatory: 2

• Cardiac MRI T2 annually* to detect cardiac iron before symptoms develop 1
• Echocardiography annually to assess left ventricular ejection fraction 1
• Severe cardiac iron loading is defined as T2* of 10-20 ms 2

Emergency Cardiac Management:

If acute decompensated heart failure develops (50% one-year mortality if untreated): 1

• Obtain immediate bedside echocardiography 1
• Initiate continuous IV deferoxamine 50 mg/kg/day PLUS deferiprone 75 mg/kg/day for combined chelation 1
• Transfer to specialized thalassemia center immediately 1
• Use minimal diuretics only—thalassemia patients require adequate preload 1
• Exclude patients with decompensated myocardiopathy from antiviral therapy 1

Hepatic and Endocrine Monitoring

Regular surveillance prevents life-threatening complications: 1

• Liver function tests every 3 months 1
• Liver iron concentration via MRI to guide chelation intensity 1
• Annual endocrine screening: diabetes, thyroid dysfunction, hypogonadism 1
• Screen for hepatitis B and C at baseline and periodically 1

Management of Viral Hepatitis in Thalassemia

Chronic viral hepatitis significantly increases morbidity and mortality in thalassemia patients: 2

Hepatitis C Treatment:

• Combination therapy with Peg-interferon plus ribavirin is recommended for HCV chronic hepatitis or compensated cirrhosis 2
• Duration: 24 weeks for genotypes 2/3, or 48 weeks for genotypes 1/4 1
• Anticipate 30-40% increase in transfusion requirements during antiviral therapy due to ribavirin-induced hemolysis 2, 1
• Monitor hemoglobin every 2 weeks during treatment 2, 1
• Maintain hemoglobin >9 g/dL with adequate transfusion supplementation 2

Critical Pitfalls During Antiviral Therapy:

• Switch from deferiprone to deferoxamine during HCV treatment to avoid compounding neutropenia risk 2
• Do not use erythropoietin for anemia management 2
• Administer granulocyte colony-stimulating factor if absolute neutrophil count drops below 500/mm³ 2
• Patients with decompensated myocardiopathy or severe arrhythmias should be excluded from antiviral treatment 2

Hepatitis B Treatment:

• Consider Peg-interferon or nucleoside/nucleotide analogs based on HBeAg status 1
• Monitor for HBV reactivation if significant proliferation occurs 2

Curative Treatment Options

Hematopoietic stem cell transplantation (HSCT) is the only cure for beta thalassemia: 4, 5

• Perform as early as possible, ideally before age 14 years 1
• Optimize iron chelation before transplant to reduce non-relapse mortality 1
• Gene therapy and gene editing are emerging as powerful curative approaches 4

Common Pitfalls to Avoid

• Inadequate monitoring during antiviral therapy—ribavirin causes hemolysis requiring 30-40% more transfusions 1
• Delaying cardiac assessment—cardiac iron overload can present with seizures and has 50% one-year mortality if untreated 1
• Aggressive diuretic therapy in heart failure—thalassemia patients require adequate preload 1
• Using valproic acid for seizures—potential hepatotoxicity in patients with underlying liver disease from iron overload 1
• Inadequate iron chelation—leads to fatal cardiac complications, the leading cause of death 2