What is the treatment for thalassemia?

Treatment of Thalassemia

The cornerstone of thalassemia management is regular blood transfusions every 3-4 weeks to maintain pre-transfusion hemoglobin at 9-10 g/dL and post-transfusion hemoglobin at 13-14 g/dL, combined with immediate initiation of iron chelation therapy to prevent life-threatening iron overload complications. 1

Transfusion Protocol

Initiate regular blood transfusions immediately to suppress ineffective erythropoiesis and prevent chronic anemia-related cardiac stress 1, 2:

• Target hemoglobin levels: Pre-transfusion 9-10 g/dL, post-transfusion 13-14 g/dL 1, 2
• Transfusion frequency: Every 3-4 weeks for transfusion-dependent patients 1, 2
• Monitoring: Check hemoglobin every 2 weeks, particularly during antiviral treatment if needed 1

The transfusion regimen must be aggressive enough to suppress the bone marrow's ineffective erythropoiesis, which reduces extramedullary hematopoiesis and skeletal deformities 1.

Iron Chelation Therapy

Begin iron chelation immediately when regular transfusions are established, as each transfused unit contains 200-250 mg of iron with no physiological excretion mechanism 2:

First-Line Chelation Options

• Deferoxamine: 50 mg/kg/day subcutaneously 5-7 nights per week 2
• Deferasirox: Starting dose 20-30 mg/kg/day orally based on liver iron concentration 2
• Deferiprone: 75 mg/kg/day orally in three divided doses 3

Critical Chelation Considerations

Deferiprone carries a black box warning for agranulocytosis and neutropenia that can lead to serious infections and death 3:

• Monitor absolute neutrophil count (ANC) weekly for the first 6 months 3
• Monitor ANC every 2 weeks for months 6-12 3
• Monitor ANC every 2-4 weeks after 1 year 3
• Interrupt deferiprone immediately if neutropenia develops 3

During antiviral treatment for hepatitis C, switch from deferiprone to deferoxamine to avoid compounding neutropenia risk 4, 1.

Combination Chelation

Use combination chelation therapy for patients with high iron burden, iron-related organ injury, or when single-agent doses cannot be tolerated 5:

• Deferoxamine + deferiprone: Best studied combination 5
• Deferasirox + deferoxamine: Increasing safety and efficacy data 5
• Deferasirox + deferiprone: Oral-only combination option 5

Monitoring Requirements

Cardiac Surveillance

• Cardiac MRI T2 annually* to detect cardiac iron before symptoms develop 1, 2
• Echocardiography annually to assess left ventricular ejection fraction 1, 2
• Patients with decompensated myocardiopathy or severe arrhythmias must be excluded from certain treatments like antiviral therapy 4, 1

Hepatic Monitoring

• Liver function tests every 3 months 1
• Liver iron concentration (LIC) via MRI to guide chelation intensity 1, 2
• ALT monitoring monthly during deferiprone therapy 3

Iron Burden Assessment

• Serum ferritin every 3 months as a trend marker (target <1000 mcg/L) 1
• MRI is more accurate than ferritin alone for assessing iron burden 1

Additional Monitoring

• Annual endocrine screening for diabetes, thyroid dysfunction, and hypogonadism 1
• Zinc levels regularly during deferiprone therapy due to risk of zinc deficiency 3

Management of Viral Hepatitis Complications

Hepatitis C Treatment

For HCV-positive thalassemia patients, use combination therapy with Peg-interferon plus ribavirin 4, 1:

• Genotypes 2 or 3: Treat for 24 weeks 4, 1
• Genotypes 1 or 4: Treat for 48 weeks 4, 1
• Stop therapy at 12 weeks if HCV-RNA has not decreased by at least 2 log units in genotypes 1 or 4 4

Critical Management During Antiviral Therapy

Expect a 30-40% increase in transfusion requirements during HCV treatment due to ribavirin-induced hemolysis 4, 1, 2:

• Maintain hemoglobin >9 g/dL with supplemental transfusions 4
• Do not use erythropoietin for anemia management 4
• Switch to deferoxamine chelation during antiviral treatment to avoid deferiprone-associated neutropenia 4, 1
• Administer granulocyte colony-stimulating factor if severe neutropenia (ANC <500/mm³) develops from interferon 4

Hepatitis B Treatment

For HBV-positive patients, consider Peg-interferon or nucleoside/nucleotide analogs (lamivudine, telbivudine, entecavir, adefovir, tenofovir) based on HBeAg status 4, 1.

Common Pitfalls and How to Avoid Them

Inadequate monitoring during antiviral therapy is a critical error—ribavirin causes predictable hemolysis requiring 30-40% more transfusions 1. Check hemoglobin every 2 weeks during this period 4.

Failure to intensify chelation before starting antiviral treatment in patients with severe iron burden can worsen outcomes 4. Optimize iron chelation and assess LIC by MRI before initiating HCV therapy 4, 1.

Using deferiprone during antiviral therapy compounds neutropenia risk from both drugs 4, 1. Always switch to deferoxamine during HCV treatment.

Inadequate adherence to iron chelation remains the leading cause of preventable morbidity and mortality 6. Younger patients and once-daily dosing (deferasirox) show better adherence than multi-dose regimens 7.

Delaying cardiac assessment when complications arise can be fatal—cardiac iron overload has 50% one-year mortality if untreated 1. Maintain annual cardiac MRI T2* screening even in asymptomatic patients 1, 2.

Curative Treatment Option

Hematopoietic stem cell transplantation (HSCT) is the only cure and should be performed as early as possible, ideally before age 14 years and before iron-related organ damage develops 2. Optimize iron chelation before transplant to reduce non-relapse mortality 1.