Question

Write a note on Thalassaemia.

Answer 1

Thalassaemia Overview

Step 1: Definition of Thalassaemia

Thalassaemia is a genetic blood disorder characterized by abnormal hemoglobin production. It results in excessive destruction of red blood cells, leading to anemia. The condition is inherited and can range from mild to severe.

Step 2: Types of Thalassaemia

1. Alpha Thalassaemia: Caused by a mutation in the genes responsible for producing the alpha-globin chain of hemoglobin. This leads to a reduction in alpha-globin production.
2. Beta Thalassaemia: Caused by a mutation in the beta-globin gene, leading to decreased production of beta-globin chains. This is more common and often more severe than alpha thalassemia.

Step 3: Symptoms of Thalassaemia

1. Mild to Severe Anemia: Individuals may experience fatigue, weakness, and pale skin.
2. Splenomegaly: Enlargement of the spleen due to increased red blood cell destruction.
3. Bone Deformities: Severe cases can lead to abnormal bone growth, particularly in the face.

Step 4: Treatment

Treatment includes blood transfusions, iron chelation therapy (to remove excess iron from blood), and in some cases, bone marrow transplants.

Step 5: Conclusion

Thalassaemia is a serious genetic disorder that can be managed with proper medical care, but early detection and genetic counseling are important for managing the condition.

Final Answer:

Thalassaemia is a genetic blood disorder resulting in abnormal hemoglobin production, leading to anemia.

Quick Tip

Genetic counseling is important for families affected by thalassaemia to understand the inheritance pattern and options for managing the disorder.