Overview
β-thalassemia major (TM) is a genetic disorder characterized by severe impairment in hemoglobin production, leading to chronic anemia and significant iron overload, primarily affecting cardiac function and causing heart failure as a leading cause of mortality 1.Diagnosis
Cardiac Iron Loading: Elevated cardiac iron assessed via MRI T2* or biopsy 1.
Ventricular Dysfunction: Echocardiography to evaluate ejection fraction and ventricular volumes, accounting for chronic anemia-induced adaptations 1.
Heart Failure Symptoms: Clinical assessment for signs and symptoms of heart failure, including dyspnea and fatigue 1.Management
Iron Chelation Therapy: Deferoxamine (intravenous), deferiprone, or deferasirox (oral) to manage iron overload 1.
Regular Monitoring: Frequent assessment of cardiac function and iron levels to guide treatment adjustments 1.
Blood Transfusions: Regular transfusions to manage anemia and reduce iron overload, though not directly treating cardiac iron loading 1.
Cardiac Support: Consideration of heart failure medications (e.g., ACE inhibitors, beta-blockers) as indicated by clinical status 1.Special Populations
Pregnancy: Management requires careful balancing of transfusion needs, iron chelation, and fetal monitoring; specific guidelines may vary 1.
Pediatrics: Early initiation of iron chelation therapy and regular cardiac monitoring to prevent long-term complications 1.
Comorbidities: Tailored management focusing on iron overload and cardiac protection, with adjustments for coexisting conditions 1.Key Recommendations
Prioritize Cardiac Iron Monitoring: Regular assessment of cardiac iron levels using MRI T2* or biopsy to prevent heart failure 1 (Evidence: Expert opinion).
Initiate Iron Chelation Early: Start iron chelation therapy early in the course of TM to mitigate cardiac iron overload 1 (Evidence: Expert opinion).
Regular Transfusion Therapy: Maintain regular blood transfusions to manage anemia and reduce iron burden, complemented by iron chelation 1 (Evidence: Expert opinion).References
1 Pennell DJ, Udelson JE, Arai AE, Bozkurt B, Cohen AR, Galanello R et al.. Cardiovascular function and treatment in β-thalassemia major: a consensus statement from the American Heart Association. Circulation 2013. link