From the Guidelines
Thalassemia is a genetic disorder that affects the production of hemoglobin, a protein in red blood cells that carries oxygen to the body's tissues [ 1 ].
Key Characteristics
- It is characterized by a severe reduction or absent production of the β-globin chain constituent of hemoglobin (Hb) A [ 1 ]
- This results in ineffective erythropoiesis caused by an excess of α-globin chains and profound anemia that is life-threatening from ≈1 to 2 years of age [ 1 ]
- Blood transfusions are required lifelong, and iron chelation treatment is necessary to prevent or reverse iron-related complications [ 1 ]
Treatment and Management
- Regular blood transfusions are typically given every 2-4 weeks for patients with beta-thalassemia major [ 1 ]
- Iron chelation therapy, such as deferasirox (Exjade) or deferoxamine (Desferal), is also necessary to remove excess iron from the body [ 1 ]
- Folic acid supplements may be prescribed to help increase red blood cell production [ 1 ]
- In some cases, bone marrow transplantation may be considered as a treatment option [ 1 ]
Monitoring and Prevention
- Regular medical check-ups are essential to monitor the condition and adjust the treatment plan as needed [ 1 ]
- Genetic counseling is recommended for individuals with a family history of thalassemia to discuss the risk of passing the disorder to their children [ 1 ]
- Pregnant women with thalassemia should receive close medical monitoring, including regular blood transfusions and iron chelation therapy, to ensure the best possible outcomes for both the mother and the baby [ 1 ]
From the Research
Definition and Causes 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 caused by a defect in one or more of the genes that code for alpha- or beta-globin chains, resulting in abnormal hemoglobin production 3.
- The disorder is characterized by ineffective production of alpha- or beta-globin chains, leading to ineffective erythropoiesis, premature red blood cell destruction, and anemia 2.
Types and Symptoms of Thalassemia
- Thalassemia can be classified into different types, including alpha-thalassemia and beta-thalassemia, each with varying degrees of severity 2, 4.
- Alpha-thalassemia major can result in hydrops fetalis and is often fatal at birth, while beta-thalassemia major requires lifelong transfusions starting in early childhood 2.
- Thalassemia intermedia has variable presentations, with mild forms requiring only monitoring and more severe forms leading to symptomatic anemia and requiring transfusion 2.
Treatment and Complications of Thalassemia
- Treatment of thalassemia includes transfusions, iron chelation therapy, hydroxyurea, hematopoietic stem cell transplantation, and luspatercept 2.
- Complications of thalassemia arise from bone marrow expansion, extramedullary hematopoiesis, and iron deposition in peripheral tissues, affecting the skeletal system, endocrine organs, heart, and liver 2.
- Splenectomy may be considered as a treatment option for people with thalassemia major or intermedia, although the evidence is limited and of low quality 5.
Impact on Families and Caregivers
- Thalassemia can have a significant impact on families and caregivers, causing mental, social, financial, and physical burdens 6.
- Repeated blood transfusions and treatment complications can lead to tissue damage, morbidity, and fatal clinical outcomes, highlighting the need for effective management and support 6.