Primary Treatment for Thalassemia
The cornerstone of thalassemia major management is regular blood transfusions to maintain pre-transfusion hemoglobin at 9-10 g/dL and post-transfusion hemoglobin at 13-14 g/dL, combined with mandatory lifelong iron chelation therapy to prevent fatal cardiac iron overload. 1
Transfusion Protocol
Initiation and Maintenance
- Begin regular transfusions immediately when diagnosis is confirmed, typically by age 1-2 years when life-threatening anemia develops 2
- Establish a regular transfusion schedule every 3-4 weeks to suppress ineffective erythropoiesis 1
- Target pre-transfusion hemoglobin of 9-10 g/dL to balance symptom control with minimizing iron loading 2
- Target post-transfusion hemoglobin of 13-14 g/dL to adequately suppress bone marrow expansion and reduce cardiac workload 2
Blood Product Specifications
- Use leukoreduced red blood cells universally to reduce febrile reactions and alloimmunization 3
- Perform RBC phenotyping at diagnosis for Rh (C, c, E, e) and Kell antigens to enable prophylactic matching and prevent alloimmunization 3, 4
- Each unit of packed red blood cells delivers approximately 200-250 mg of iron, leading to inevitable iron overload after 20-25 transfusions 2
Iron Chelation Therapy
Critical Importance
Iron chelation must begin immediately with the start of regular transfusions, as cardiac iron overload historically caused 70% of deaths in thalassemia major patients and remains the leading cause of mortality 2
Chelation Options
- Deferoxamine (subcutaneous or intravenous): The gold standard that improved median survival from 10 years (unchelated) to 35+ years 2
- Deferiprone (oral): Alternative agent, but use with caution due to neutropenia risk, particularly during concurrent antiviral therapy 1, 5
- Deferasirox (oral): Third option, though safety data is limited when combined with certain medications 5
Monitoring Iron Burden
- Measure liver iron concentration (LIC) via MRI to guide chelation intensity 1
- Perform cardiac MRI T2* annually to detect early cardiac iron deposition (severe <10 ms, moderate 10-20 ms) 2, 1
- Monitor serum ferritin every 3 months, though this correlates imperfectly with tissue iron 1
Surveillance for Complications
Cardiac Monitoring
- Annual echocardiography and cardiac MRI T2 are mandatory, as cardiac iron overload can present suddenly with heart failure or even seizures, carrying 50% one-year mortality if untreated* 1
- Maintain continuous vigilance as cardiac disease is easier to treat early rather than in decompensated stages 2
Endocrine Screening
- Screen annually for diabetes mellitus, thyroid dysfunction, and hypogonadism due to iron deposition in endocrine organs 1
Hepatic Assessment
- Check liver function tests every 3 months 1
- Screen for hepatitis B and C, as chronic viral hepatitis affects many transfusion-dependent patients depending on geographic region 1
Hematologic Monitoring
- Monitor hemoglobin levels every 2 weeks during stable transfusion regimens 1
- Check complete blood count every 3-6 months in less severe forms (Hemoglobin H disease) 6
Critical Pitfalls to Avoid
- Never delay cardiac assessment in symptomatic patients—cardiac iron overload can present atypically with seizures and requires immediate echocardiography 1
- Avoid aggressive diuretic therapy in heart failure, as thalassemia patients require adequate preload; use minimal diuretics only 1
- Do not use deferiprone during antiviral therapy without careful monitoring due to additive neutropenia risk 5
- Switch to deferoxamine during hepatitis C treatment rather than continuing deferiprone or deferasirox 5
- Never transfuse to arbitrary hemoglobin targets without considering the balance between symptom control and iron loading 2