What is beta thalassemia (Beta Thalassemia)

From the Guidelines

Beta thalassemia major patients should receive regular blood transfusions every 2-4 weeks to maintain hemoglobin levels above 9-10 g/dL, along with iron chelation therapy, to reduce the risk of cardiac complications and improve quality of life. The management of beta thalassemia major is crucial to prevent long-term complications, particularly cardiac issues, which are the most common cause of death in these patients 1. According to the American Heart Association, the diagnosis of ventricular dysfunction in beta thalassemia major patients differs from that in non-anemic patients, and cardiac T2* magnetic resonance is essential for estimating cardiac iron overload 1.

Treatment Options

• Regular blood transfusions every 2-4 weeks to maintain hemoglobin levels above 9-10 g/dL
• Iron chelation therapy using medications like deferasirox, deferiprone, or deferoxamine
• Bone marrow transplantation, which offers the only potential cure, with best outcomes when performed before complications develop 1
• Supportive care, including folic acid supplementation, prompt treatment of infections, and management of complications like osteoporosis and cardiac issues

Monitoring and Management

• Regular monitoring of organ function, iron levels, and growth in children is crucial for optimal management
• Cardiac T2* magnetic resonance should be used to estimate cardiac iron overload, as serum ferritin and liver iron concentration are not adequate surrogates for cardiac iron measurement 1
• Acute decompensated heart failure is a medical emergency and requires urgent consultation with a center with expertise in its management, with the first principle of management being control of cardiac toxicity related to free iron by urgent commencement of a continuous, uninterrupted infusion of high-dose intravenous deferoxamine 1

From the Research

Definition and Forms of Beta Thalassemia

• Beta thalassemia is an inherited hematological disorder characterized by a decrease or absence of one or more of the globin chains synthesis, specifically caused by one or more mutations in the beta-globin gene 2.
• It is categorized into three main forms: thalassemia major, intermedia, and minor/silent carrier, with thalassemia major being the most severe form requiring regular blood transfusions for survival 2.

Complications of Beta Thalassemia

• Regular blood transfusions lead to iron overload, which can cause damage to the liver, endocrine system, and heart, resulting in the production of reactive oxygen species (ROS) that are harmful and can lead to injury of the hepatic, endocrine, and vascular systems 2, 3.
• Prolonged exposure to iron toxicity can lead to the development of endocrinopathy, osteoporosis, cirrhosis, renal failure, and malignant transformation 3.

Diagnosis and Treatment of Beta Thalassemia

• Diagnosis can be made through prenatal testing, blood smear, complete blood count, and DNA analysis (genetic testing) 2.
• Treatment for thalassemia major includes regular blood transfusions, iron chelation therapy, bone marrow transplantation, hematopoietic stem cell transplantation, stimulation of fetal hemoglobin production, and gene therapy 2.
• Iron chelation therapy is essential to prevent cardiac failure and other complications due to iron accumulation, and the goal is to maintain body iron levels within the normal range, avoiding possible chelation-related damage 4, 3.

Challenges in Managing Beta Thalassemia

• Patients with beta thalassemia major face challenges in accessing regular and safe blood transfusions, particularly in resource-poor countries, due to a lack of voluntary nonremunerated blood donors, poor awareness of thalassemia, and inadequate blood services 5.
• There is a need for increased awareness, training, and resources to improve and standardize blood transfusion services and iron chelation therapy among patients with beta thalassemia major 5.

Blood Transfusion Strategies

• The use of fresh blood (less than 14 days old) for transfusion in adults with beta thalassemia major may help maintain a higher pre-transfusion hemoglobin level, potentially reducing iron overload and chelation costs 6.