From the Guidelines
Thalassemia is a genetic condition characterized by a severe reduction or absent production of the β-globin chain constituent of hemoglobin (Hb) A, resulting in ineffective erythropoiesis and profound anemia.
Key Characteristics
- Thalassemia major (TM) is the most severe form of the disease, requiring lifelong blood transfusions and iron chelation treatment to prevent or reverse iron-related complications 1
- The disease is most prevalent in areas with endemic population exposure to malaria, such as Asia, the Middle East, and Mediterranean Europe 1
- Thalassemia major is characterized by a broad phenotypic characterization, including the requirement for >8 transfusion events per year in an adult aged >16 years 1
Clinical Management
- Regular blood transfusions and chelation therapy have improved the survival of patients with thalassemia major 1
- Assessment of heart and liver iron overload is required to tailor iron chelation therapy, and diagnosis of hepatitis B virus (HBV) or hepatitis C virus (HCV) related chronic hepatitis is necessary to identify patients at high risk of developing liver complications 1
- Antiviral therapy may be necessary for patients with chronic viral hepatitis, and management should include controls of hemoglobin levels, adequate supplementation of blood transfusion, and monitoring of liver structure and function 1
From the Research
Definition and Overview of Thalassemia
- Thalassemia is a group of genetic disorders that affect the production of hemoglobin, a protein in red blood cells that carries oxygen to the body's tissues 2, 3, 4, 5, 6.
- It is caused by mutations in the genes that code for the alpha and beta globin chains of hemoglobin, leading to a reduction or absence of these chains 2, 4, 6.
- Thalassemia is classified into two main types: alpha-thalassemia and beta-thalassemia, depending on which globin chain is affected 4, 6.
Causes and Inheritance
- Thalassemia is usually inherited in an autosomal recessive manner, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the disorder 2, 6.
- The mutations that cause thalassemia can be inherited from one's parents or can occur spontaneously during fetal development 4.
Symptoms and Complications
- The symptoms of thalassemia vary depending on the severity of the disorder and can range from mild anemia to severe anemia, growth retardation, and skeletal abnormalities 2, 4, 6.
- Complications of thalassemia can include iron overload, bone marrow expansion, extramedullary hematopoiesis, and damage to organs such as the heart, liver, and endocrine glands 2, 5, 6.
Diagnosis and Treatment
- Thalassemia is typically diagnosed through a combination of physical examination, laboratory tests (such as hemoglobin electrophoresis and genetic testing), and medical history 3, 6.
- Treatment for thalassemia depends on the severity of the disorder and can include blood transfusions, iron chelation therapy, hydroxyurea, hematopoietic stem cell transplantation, and luspatercept 5, 6.