What is the treatment for thalassemia?

Treatment of Thalassemia

The comprehensive management of thalassemia requires regular blood transfusions to maintain hemoglobin levels between 9-10 g/dL pre-transfusion and 13-14 g/dL post-transfusion, coupled with concurrent iron chelation therapy to prevent complications from iron overload. 1

Transfusion Management

• Initiate blood transfusion immediately for patients with thalassemia major to raise hemoglobin above 9 g/dL, and establish regular transfusion schedule every 3-4 weeks 1
• Target pre-transfusion hemoglobin of 9-10 g/dL and post-transfusion hemoglobin of 13-14 g/dL to suppress ineffective erythropoiesis 1, 2
• Monitor hemoglobin levels every 2 weeks, especially during periods of antiviral treatment if needed 1
• All patients with severe anemia (hemoglobin lower than 8 g/dL) should receive RBC transfusion 2

Iron Chelation Therapy

• Start iron chelation therapy concurrently with transfusion therapy to prevent complications of iron overload 1, 2
• Deferiprone is indicated for the treatment of transfusional iron overload in adult patients with thalassemia syndromes when current chelation therapy is inadequate 3
• The recommended starting oral dosage of deferiprone is 75 mg/kg/day (actual body weight), in three divided doses per day 3
• Monitor for agranulocytosis and neutropenia, which are serious side effects of deferiprone that can lead to infections and death 3
• Measure absolute neutrophil count (ANC) before starting deferiprone therapy and monitor regularly while on therapy 3
• Switch to deferoxamine during antiviral treatment for hepatitis C 4, 1
• Monitor liver iron concentration (LIC) via MRI to guide chelation therapy intensity 1

Monitoring for Complications

• Cardiac assessment: Perform echocardiography and cardiac MRI T2* annually to detect early iron-related cardiomyopathy 1
• Hepatic assessment: Monitor liver function tests every 3 months and ALT monthly during deferiprone therapy 1, 3
• Endocrine evaluation: Conduct annual screening for diabetes, thyroid dysfunction, and hypogonadism 1
• Monitor for zinc deficiency before and regularly during deferiprone therapy 3

Management of Viral Hepatitis in Thalassemia

• For HCV infection: Combination therapy with Peg-interferon plus ribavirin for 24 weeks (genotypes 2/3) or 48 weeks (genotypes 1/4) 4
• Expect 30-40% increase in transfusion requirements during HCV treatment 4, 2
• In patients infected with genotype 1 or 4, withdraw antiviral therapy after 12 weeks if serum HCV-RNA levels have not decreased by at least 2 log units compared with baseline 4
• Maintain hemoglobin levels above 9 g/dL during antiviral therapy 4

Long-term Treatment Options

• Allogeneic hematopoietic stem cell transplantation (HSCT) is the only curative option for thalassemia major 2, 5
• Gene therapy is under investigation as a potential cure 5, 6
• Induction of fetal hemoglobin with pharmacologic compounds is being researched 5, 6

Common Pitfalls and Caveats

• Failure to initiate iron chelation therapy concurrently with transfusion therapy can lead to iron overload and organ damage 2, 7
• Deferiprone can cause agranulocytosis and neutropenia; interrupt therapy if neutropenia develops 3
• Patients with cardiovascular diseases should be closely monitored, and those with decompensated myocardiopathy should be excluded from certain treatments 4
• Regular monitoring for complications of iron overload is essential as cardiac disease remains the main cause of death in patients with iron overload 7
• Life expectancy has improved dramatically over the past decades with increased availability of blood transfusions and iron chelation therapy 8