International Thalassemia Day: Everything you need to know about thalassemia

According to a report published by the National Health Mission in 2016, India has the largest number of children with Thalassemia major in the world - about 1 to 1.5 lakhs and almost 42 million carriers of ß (beta) thalassemia trait. About 10,000 -15,000 babies with thalassemia major are born every year. Even though India has the technical know-how, and means of treatment, the blood disorder often goes undetected due to lack of awareness, and screenings. On International Thalassemia Day, Dr. Balkrishna Padate, director and head of haematology, haemato-oncology and bone marrow transplantation at Nanavati Max Super Speciality Hospital, answers important questions to deepen our understanding.

What is thalassemia? Is it genetic?

Padate: Thalassemia is a collection of inherited blood disorders characterised by the impaired production of haemoglobin, a protein in red blood cells that carries oxygen throughout the body. The condition results from a genetic mutation inherited from one or both parents, leading to the destruction of red blood cells and subsequent anaemia.

What are the different types of thalassemia?

Padate: There are two main types of thalassemia, alpha-thalassemia and beta-thalassemia. Both of these types have varying degrees of severity, with symptoms ranging from mild to life-threatening.

Alpha-thalassemia occurs when one or more of the four alpha-globin genes responsible for producing alpha-globin chains are missing or mutated. The severity of alpha-thalassemia depends on the number of affected genes, ranging from silent carriers (one affected gene) to alpha-thalassemia major (all four affected genes), which is usually fatal before or shortly after birth.

Beta-thalassemia, on the other hand, results from mutations in one or both of the beta-globin genes responsible for producing beta-globin chains. The severity of beta-thalassemia can range from thalassemia minor (one affected gene) to thalassemia intermedia and thalassemia major (both genes affected), also known as Cooley's anaemia.

What causes thalassemia?

Padate: The causes of thalassemia are rooted in the genetic mutations inherited from one or both parents. These mutations disrupt the normal production of haemoglobin, leading to an imbalance in the alpha and beta-globin chains, which in turn affects the stability and function of the red blood cells. Consequently, the body's ability to deliver oxygen to tissues and organs is impaired.

What are the symptoms?

Padate: Symptoms of thalassemia vary depending on the type and severity of the disorder. Individuals with thalassemia minor may not exhibit any symptoms, while those with more severe forms may experience fatigue, weakness, pale or yellowish skin, facial bone deformities, slow growth, and an enlarged spleen. In severe cases, complications such as heart failure, liver damage, and infection susceptibility may arise.

How can it be diagnosed?

Padate: Diagnosis of thalassemia typically involves blood tests, including a complete blood count (CBC) and haemoglobin electrophoresis. A CBC measures the amount of haemoglobin and the number of red blood cells present in the blood, while haemoglobin electrophoresis is used to identify abnormal forms of haemoglobin. Additionally, DNA analysis may be conducted to identify specific genetic mutations associated with the condition.

What is the link between anaemia and thalassemia?

Padate: The relationship between anaemia and thalassemia lies in the fact that the impaired production of haemoglobin in thalassemia leads to the destruction of red blood cells, causing anaemia. Anaemia is a condition characterised by a deficiency of red blood cells or haemoglobin, resulting in reduced oxygen-carrying capacity of the blood.

What are the treatment options?

Padate: Management of thalassemia also involves regular monitoring and supportive care to address complications and improve the patient's quality of life. This may include monitoring for iron overload, screening for infections, and addressing any issues related to growth and development, particularly in children.

Treatment options for thalassemia depend on the type and severity of the condition. Individuals with thalassemia minor may not require any treatment throughout their lives and can lead completely normal lives. However, thalassemia intermedia and thalassemia major patients need blood transfusions and iron chelation therapy at varying frequencies.

Blood transfusions are necessary to replace the damaged red blood cells with healthy ones, ensuring the body receives an adequate supply of oxygen. Iron chelation therapy is used to remove excess iron accumulated in the body due to repeated transfusions, as excessive iron can damage vital organs such as the heart and liver. Patients may also require folic acid supplementation to support the production of red blood cells.

Allogeneic bone marrow transplantation is the only cure for thalassemia major. This procedure involves replacing the patient's bone marrow, which is responsible for producing blood cells, with healthy bone marrow from a compatible donor, usually a sibling or an unrelated donor with a close genetic match. The healthy bone marrow allows the patient's body to produce normal red blood cells and haemoglobin, effectively curing the disorder.

However, bone marrow transplantation carries significant risks and potential complications, such as graft-versus-host disease (GVHD), in which the donor's immune cells attack the recipient's body, and the possibility of transplant rejection. Therefore, this treatment option is generally reserved for patients with severe thalassemia and those who have a suitable donor available.

In addition to the above treatments, research is ongoing to develop novel therapies for thalassemia, including gene therapy and gene editing techniques. These approaches aim to correct the underlying genetic mutations responsible for thalassemia, potentially offering a long-term solution for patients with the disorder.

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