From the Guidelines
Thalassemia is a genetic blood disorder characterized by reduced or abnormal production of hemoglobin, leading to chronic anemia and associated cardiovascular complications, as evident in patients with β-thalassemia major who have increased cardiac index, mild tachycardia, and cardiomegaly as physiological compensation for the anemia 1.
Key Characteristics
- Inherited from one or both parents
- Exists in two main forms: alpha thalassemia and beta thalassemia
- Severity varies widely, from mild to severe forms
- Symptoms include fatigue, weakness, pale skin, facial bone deformities, slow growth, and an enlarged spleen
Treatment and Management
- Treatment depends on severity and may include:
- Blood transfusions
- Iron chelation therapy with medications like deferasirox, deferoxamine, or deferiprone
- Folic acid supplements
- Bone marrow transplantation in some cases
- Regular monitoring of iron levels is crucial for patients receiving transfusions to prevent complications from iron overload, as iron overload can exacerbate oxidative stress in the vasculature and accelerate age-related increases in vascular stiffness 1
Important Considerations
- Thalassemia is more common in people of Mediterranean, African, Middle Eastern, and Southeast Asian descent
- Patients with thalassemia major have unique physiological differences that affect the success of heart failure treatment, requiring careful titration of afterload reduction and cautious use of positive inotropes 1
From the Research
Definition of Thalassemia
- Thalassemia is a group of autosomal recessive hemoglobinopathies affecting the production of normal alpha- or beta-globin chains that comprise hemoglobin 2
- It is characterized by decreased or absent production of normal hemoglobin leading to decreased red blood cell survival and ineffective erythropoiesis 3
- Thalassemia is a hereditary anaemia due to ineffective erythropoiesis, resulting in premature red blood cell destruction and anemia 4, 5
Types of Thalassemia
- Alpha-thalassemia: results in hydrops fetalis and is often fatal at birth 2
- Beta-thalassemia: requires lifelong transfusions starting in early childhood, and can have variable presentations based on gene mutation or deletion 2, 4
- Thalassemia intermedia: has variable presentations based on gene mutation or deletion, with mild forms requiring only monitoring but more severe forms leading to symptomatic anemia and requiring transfusion 2
Complications of Thalassemia
- Chronic iron overload due to regular blood transfusions and/or increased iron absorption 3, 4, 5
- Bone marrow expansion and extramedullary hematopoiesis 2, 4
- Iron deposition in peripheral tissues, leading to morbidities affecting the skeletal system, endocrine organs, heart, and liver 2, 4
- Negative impact on family members, including mental, social, financial, and physical challenges 6
Treatment of Thalassemia
- Transfusions to treat anemia 2, 4, 5
- Iron chelation therapy to correct iron overload 3, 2, 4, 5
- Hydroxyurea, hematopoietic stem cell transplantation, and luspatercept as potential treatment options 2
- Deferasirox, an oral iron chelating agent, as a treatment option for transfusion-dependent and non-transfusion-dependent thalassemia 3, 5