From the Guidelines
Thalassemia is a genetic blood disorder characterized by reduced or abnormal production of hemoglobin, the protein in red blood cells that carries oxygen, resulting in ineffective erythropoiesis and profound anemia, as described in the study by 1.
Definition and Types of Thalassemia
Thalassemia is a genetic condition with severe reduction or absent production of the β-globin chain constituent of hemoglobin (Hb) A, leading to ineffective erythropoiesis caused by an excess of α-globin chains, as noted in the study by 1. There are two main types: alpha thalassemia (affecting the alpha-globin chain) and beta thalassemia (affecting the beta-globin chain), with varying degrees of severity ranging from mild (thalassemia minor) to severe (thalassemia major).
Symptoms and Treatment
People with thalassemia may experience:
- Anemia
- Fatigue
- Weakness
- Pale skin
- Facial bone deformities
- Slow growth
- Enlarged spleen Treatment depends on severity and may include:
- Regular blood transfusions
- Iron chelation therapy with medications like deferasirox (Exjade), deferoxamine (Desferal), or deferiprone (Ferriprox)
- Folic acid supplementation
- In severe cases, bone marrow transplantation The condition occurs when mutations in genes that control hemoglobin production are inherited from parents, with certain populations from Mediterranean, Middle Eastern, African, and Southeast Asian backgrounds having higher risk, as mentioned in the study by 1.
Management and Monitoring
Regular monitoring of iron levels, heart and liver function is essential for patients receiving transfusions to prevent complications from iron overload, as recommended in the study by 1. The management of antiviral treatment in thalassemia patients requires a multidisciplinary approach, including both a hematologist and a hepatologist, as suggested in the study by 1.
Key Recommendations
The most recent and highest quality study 1 recommends that patients with thalassemia major require lifelong blood transfusions and iron chelation treatment to prevent or reverse iron-related complications. Additionally, the study by 1 provides recommendations for the treatment of thalassemia patients with chronic HCV hepatitis, including combination therapy with Peg-interferon plus ribavirin, and regular monitoring of hemoglobin levels and iron burden.
From the Research
Definition and Causes of Thalassemia
- Thalassemia is a group of genetic disorders that affect the production of hemoglobin, a protein in red blood cells that carries oxygen 2, 3, 4, 5, 6.
- The disorder is caused by mutations or deletions in the genes that code for the alpha or beta chains of hemoglobin, leading to reduced or absent production of these chains 3, 4, 5, 6.
- Thalassemia can be classified into different types, including alpha-thalassemia and beta-thalassemia, each with varying degrees of severity 3, 4, 5.
Clinical Phenotypes and Symptoms
- Beta-thalassemia has two main clinical phenotypes: transfusion-dependent thalassemia (TDT) and non-transfusion-dependent thalassemia (NTDT) 2.
- Symptoms of thalassemia can range from mild to severe and include anemia, fatigue, pale skin, and shortness of breath 3, 4, 5.
- In severe cases, thalassemia can lead to complications such as heart problems, liver damage, and bone deformities 3, 4, 5.
Diagnosis and Treatment
- Diagnosis of thalassemia is typically made through a combination of blood tests, including hemoglobin electrophoresis and genetic testing 3, 4, 5.
- Treatment options for thalassemia depend on the severity of the disease and can include blood transfusions, iron chelation therapy, and bone marrow transplantation 2, 3, 4, 5.
- Novel therapeutic approaches, such as gene therapy and stimulation of fetal hemoglobin production, are also being developed to treat thalassemia 2, 5.
Epidemiology and Prevention
- Thalassemia is a common genetic disorder in many parts of the world, with a high prevalence in regions such as the Mediterranean and Southeast Asia 3, 6.
- Prevention of thalassemia can be achieved through genetic counseling and screening, particularly in high-risk populations 3, 4, 6.
- Mathematical modeling has shown that prevention measures can reduce the prevalence of thalassemia in the short term, but may not eradicate the disease in the long term 6.