Thalassemia

Thalassemia is a genetic blood disorder characterized by abnormal hemoglobin production, leading to anemia. It affects millions of people worldwide and varies in severity from mild to life-threatening. World Thalassemia Day is observed on 8th May every year.

What Causes Thalassemia?

Thalassemia results from mutations in the genes responsible for producing hemoglobin, the protein in red blood cells that carries oxygen. These mutations lead to either reduced production or abnormal structure of hemoglobin molecules. Thalassemia is inherited in an autosomal recessive pattern, meaning both parents must carry the defective gene for their child to inherit the disorder.

Types of Thalassemia

1. Alpha Thalassemia: This occurs when there is a mutation in HBA1 or HBA2 genes, in one or more of the four genes responsible for producing alpha globin chains. The severity of alpha thalassemia depends on the number of genes affected.

2. Beta Thalassemia: This results from mutations in the beta-globin (HBB) genes. It can be classified into two main types: Thalassemia major (Cooley's anemia) and Thalassemia intermedia, depending on the severity of symptoms.

Symptoms of Thalassemia:

• Fatigue and weakness: Due to reduced oxygen-carrying capacity of the blood.

• Pale or yellowish skin: Anemia can cause paleness, while excessive breakdown of red blood cells can lead to jaundice.

• Bone deformities: Particularly in severe cases of thalassemia, bone marrow expansion can result in bone deformities, especially in the face and skull.

• Enlarged spleen: The spleen may become enlarged as it works harder to clear out abnormal red blood cells.

• Delayed growth and development: Especially in children with severe thalassemia.

Diagnosis

Thalassemia is typically diagnosed through blood tests that measure hemoglobin levels and the size and shape of red blood cells. Additional tests may be performed to determine the specific type of thalassemia and its severity. Genetic testing can also be used to identify carrier status and to provide prenatal diagnosis for at-risk couples.

Treatment Options

1. Blood Transfusions: Regular blood transfusions are the primary treatment for individuals with moderate to severe thalassemia. This helps to maintain an adequate hemoglobin level and alleviate symptoms.

2. Chelation Therapy: Blood transfusions can lead to iron overload in the body, which can be toxic. Chelation therapy involves the use of medications to remove excess iron from the body.

3. Bone Marrow Transplantation: For eligible patients, a bone marrow transplant can potentially cure thalassemia by replacing defective bone marrow with healthy donor cells.
   

Living with Thalassemia

Living with thalassemia requires ongoing medical care and management to prevent complications and maintain a good quality of life. This may include regular monitoring of blood counts, adherence to treatment regimens, and adopting a healthy lifestyle.

Thalassemia is a complex genetic disorder that requires a multidisciplinary approach to diagnosis and management. Early detection through screening programs, raising awareness, and genetic counseling can help to reduce the burden of thalassemia on affected individuals and their families.

-Written by Sohni Tagore