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

Types of Thalassemia and Clinical Presentation

• Thalassemia is classified into three main forms: thalassemia major (severe, transfusion-dependent), thalassemia intermedia (moderate severity), and thalassemia minor (clinically asymptomatic) 2
• Patients with thalassemia major typically present within the first two years of life with severe anemia requiring regular transfusions 2
• Untreated or poorly transfused individuals may develop growth retardation, pallor, jaundice, hepatosplenomegaly, leg ulcers, extramedullary hematopoiesis, and skeletal changes 2
• Thalassemia intermedia presents later in life with moderate anemia and may not require regular transfusions 2

Transfusion Management

• Initiate blood transfusion immediately for patients with thalassemia major to raise hemoglobin above 9 g/dL 1
• Establish regular transfusion schedule every 3-4 weeks to maintain pre-transfusion hemoglobin at 9-10 g/dL 1, 3
• Target post-transfusion hemoglobin of 13-14 g/dL to suppress ineffective erythropoiesis 1, 3
• Monitor hemoglobin levels every 2 weeks, especially during periods of antiviral treatment if needed 1
• Expect a 30-40% increase in transfusion requirements during HCV treatment if applicable 3

Iron Chelation Therapy

• Start iron chelation therapy concurrently with transfusion therapy to prevent complications of iron overload 1, 3
• Three main iron chelators are available:
  • Deferoxamine: Recommended during periods of antiviral treatment for hepatitis C 1
  • Deferiprone: Use with caution as it may increase risk of neutropenia; indicated for treatment of transfusional iron overload in adult patients with thalassemia syndromes when current chelation therapy is inadequate 1, 4
  • Deferasirox: Monitor safety during combined antiviral treatment 5
• The recommended starting oral dosage of deferiprone is 75 mg/kg/day (actual body weight), in three divided doses per day 4
• Monitor liver iron concentration (LIC) via MRI to guide chelation therapy intensity 1, 3

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 perform ultrasound analysis of liver structure every 6-12 months 1, 5
• Endocrine evaluation: Annual screening for diabetes, thyroid dysfunction, and hypogonadism 1
• For patients on deferiprone:
  • Monitor absolute neutrophil count (ANC) before starting therapy and weekly during the first six months, every two weeks for the next six months, and every 2-4 weeks after one year of therapy 4
  • Monitor ALT monthly during deferiprone therapy 4
  • Monitor zinc levels before and regularly during deferiprone therapy 4

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) 5, 1
• 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 5
• Switch to deferoxamine during antiviral treatment for hepatitis C 1
• Maintain hemoglobin levels above 9 g/dL during antiviral therapy 5
• Consider intensification of chelation treatment before starting antiviral treatment in patients with severe iron burden 5

Advanced Treatment Options

• Allogeneic hematopoietic stem cell transplantation (HSCT) is the only curative option currently available for thalassemia major 6, 7
• Gene therapy is under investigation as a potential cure 6, 8
• Pharmacologic induction of fetal hemoglobin (such as with hydroxyurea) may be beneficial in some cases 7, 8

Common Pitfalls and Caveats

• Failure to initiate iron chelation therapy concurrently with transfusion therapy can lead to iron overload and organ damage 3
• Patients with cardiovascular diseases should be closely monitored, and those with decompensated myocardiopathy should be excluded from certain treatments like antiviral therapy 5
• The use of growth factors for anemia, such as erythropoietin, is not advised in thalassemia patients on treatment with antiviral combination therapy 5
• Continuous monitoring of hematologic parameters is necessary to detect anemia and neutropenia, which are common adverse events, especially during antiviral treatment 5