Thalassemia is one of the most challenging form of hematological disorders. Ninety percent of the children develop symptoms of anemia in the first two years of birth, requiring blood transfusions for rest of their lives.

About 100,000 babies worldwide are born with severe forms of the disease each year. Thalassemia occurs most frequently in people of Italian, Greek, Middle Eastern, South Asian (Indian Sub-continent) and African ancestry.

Approximately 100,000 children born with Thalassaemia in the world, among them about 10,000 cases are in India. In certain Indian population like Assamese, Bengali, Gujarati, Maharashtrian, Marwari and Punjabi, as high as 25% of the population are silent carriers of a defective Thalassaemia gene, while mildly anemic are not otherwise affected by the illness. In Gujarat itself Thalassaemia is very common in some castes like Bhanushalis, Lohana, Sindhi, Meman, Khoja, Jain and Brahmin.

Thalassemia is also known as Mediterranean anemia or Cooley’s anemia is a genetic blood disease. People born with this disease cannot make normal hemoglobin, which is needed to produce healthy red blood cells.

The two main types of thalassemia, alpha and beta, are named for the two protein chains that make up normal hemoglobin. The genes for each type of thalassemia are passed from parents to their children. There are mild and severe forms of the disease, the latter often called Cooley’s anemia.

ALPHA THALASSEMIA: 
Alpha thalassemia occurs when one or more of the four genes needed for making the alpha globin chain of hemoglobin are variant or missing. Moderate to severe anemia results when more than two genes are affected. Alpha thalassemia major can result in miscarriages.

BETA THALASSEMIA:
Beta thalassemia occurs when one or both of the two genes needed for making the beta globin chain of hemoglobin are variant. The severity of illness depends on whether one or both genes are affected, and the nature of the abnormality. If both genes are affected, anemia can range from moderate to severe.

People with mutation only in one gene are known as carriers or are said to have thalassemia minor. Thalassemia minor results in no anemia or very slight anemia. People who are carriers do not require blood transfusion or iron therapy, unless proven to be iron deficient.