Thalassaemia

Thalassemia is a genetic blood disorder characterized by abnormal hemoglobin production, leading to anemia. This condition affects millions of people worldwide, particularly those of Mediterranean, African, Middle Eastern, and Southeast Asian descent. Despite being a hereditary disorder, thalassemia varies in severity, with some individuals experiencing mild symptoms while others require lifelong medical intervention.

Thalassemia results from mutations in the genes responsible for hemoglobin production. Hemoglobin is a protein found in red blood cells that carries oxygen throughout the body. When these genes are mutated, the production of hemoglobin is disrupted, leading to insufficient levels of healthy red blood cells.

The severity of thalassemia depends on the specific gene mutations inherited from both parents. Individuals who inherit one mutated gene are carriers, often asymptomatic but can pass the condition to their children. Those who inherit two mutated genes, one from each parent, develop thalassemia.

1. Alpha Thalassemia: This type occurs when there is a defect in the genes responsible for alpha-globin production. The severity of alpha thalassemia varies, ranging from mild anemia to a life-threatening condition known as hydrops fetalis.
2. Beta Thalassemia: Beta thalassemia results from mutations in the beta-globin genes. It is further classified into thalassemia major, intermedia, and minor based on the severity of symptoms.

The signs and symptoms of thalassemia can vary widely depending on its type and severity. Common symptoms include:

• Fatigue and weakness
• Pale or yellowish skin
• Shortness of breath
• Facial bone deformities (in severe cases)
• Delayed growth and development (in children)
• Enlarged spleen and liver

Severe forms of thalassemia may require regular blood transfusions to alleviate symptoms and maintain adequate hemoglobin levels. However, repeated transfusions can lead to iron overload in the body, necessitating treatment with iron-chelating medications.

The treatment approach for thalassemia depends on its type and severity. Options may include:

Blood Transfusions: Regular transfusions can help replenish red blood cells and alleviate anemia symptoms.
Iron Chelation Therapy: This treatment removes excess iron from the body, preventing organ damage caused by iron overload.
Bone Marrow Transplantation: For severe cases, a bone marrow transplant may be considered to replace defective stem cells with healthy ones.
Folic Acid Supplements: Folic acid supplementation is often recommended to support red blood cell production.