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, with two main types: alpha thalassemia and beta thalassemia, affecting the alpha-globin and beta-globin chains, respectively, with varying degrees of severity from minor to major forms 1.
Overview of Thalassemia
Thalassemia major (TM) is a severe form of the disorder, requiring lifelong blood transfusions, which can lead to iron overload and related complications, making iron chelation therapy essential to prevent or reverse these issues 1. The disorder is more common in people of Mediterranean, African, Middle Eastern, and Southeast Asian descent due to the protective effect these genetic mutations offered against malaria in those regions.
Clinical Manifestations and Treatment
People with thalassemia may experience anemia, fatigue, weakness, pale skin, facial bone deformities, slow growth, and 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, which is the only available curative option, with a 20-year probability of thalassemia-free survival of 73% in patients transplanted from an HLA-identical sibling donor 1
Genetic Counseling and Inheritance
Genetic counseling is recommended for affected individuals planning to have children, as the condition is inherited in an autosomal recessive pattern, meaning both parents must carry the gene for a child to potentially develop the severe form 1.
Recent Developments and Recommendations
Recent results show that, with modern transplantation approaches and careful patient selection, even better results could be obtained, with over 90% of patients surviving hematopoietic stem cell transplantation and disease-free survival around 80% 1. However, the availability of optimal conventional medical therapy and the prospect of gene therapy are both limited to industrialized countries, making transplantation remain the only available curative approach for TM in many parts of the world 1.
From the Research
Definition of Thalassemia
- Thalassemia is a group of inherited blood defects that are among the world's most prevalent hemoglobinopathies 2
- It is characterized by gene mutations leading to low levels and/or malfunctioning α and β globin proteins, which can result in hemolysis and impede erythropoiesis
Types of Thalassemia
- There are two main types of Thalassemia: Alpha and Beta Thalassemia 2
- Alpha Thalassemia is caused by mutations in the genes that code for alpha-globin proteins, while Beta Thalassemia is caused by mutations in the genes that code for beta-globin proteins
Symptoms and Complications
- Individuals with mild symptoms may be carriers of alpha Thalassemia or have the alpha or beta-thalassemia trait 2
- Alpha Thalassemia can cause conditions such as hemolytic anemia or fatal hydrops fetalis, depending on the severity of the disease 2
- Beta Thalassemia major can result in hemolytic anemia, growth retardation, and skeletal aberrations in early childhood, and may require regular blood transfusions throughout life 2
Treatment and Cure
- The only cure for Thalassemias is a bone marrow transplant or gene therapy, although these treatments have currently no significant success rate 2
- A thorough understanding of the molecular basis of this syndrome may provide novel insights and ideas for its treatment 2
Note: The study 3 is not relevant to the topic of Thalassemia.