Diagnostic Hub

Thalassemia testing typically involves blood tests to determine the different variants of hemoglobin and their amounts in RBCs and, in some cases, genetic testing is performed to identify the genetic mutations associated with thalassemia.

• Know Your Thalassemia Carrier Status

Many carriers have no symptoms but can pass the gene to their children.

• Pre-marital and General Screening

This involves blood tests to identify thalassemia carriers. Individuals planning to marry are encouraged to undergo screening to prevent the transmission of the disease to their children.

• Family Screening

Families with a history of thalassemia are advised to get their blood relatives screened to identify carriers and provide appropriate counselling.

• Prevention

Testing helps in preventing the thalassemia to the next generation.

• Better Health Planning

Knowing your status allows for informed medical and family decisions

• Recommendation and counselling for Prenatal Testing:

For at-risk couples, prenatal testing, such as CVS, can be performed to diagnose thalassemia in the fetus.

• Complete Blood Count (CBC)

This test measures the number of red blood cells, hemoglobin levels, and other blood cell characteristics. People with thalassemia typically have fewer red blood cells and lower hemoglobin levels than normal.

• Peripheral Blood Smear

This test examines the size, shape, and appearance of red blood cells under a microscope. In thalassemia, red blood cells may appear smaller, paler, or have other abnormalities.

• Hemoglobin Electrophoresis

This test separates different types of hemoglobin in the blood, allowing for the identification of abnormal hemoglobin variants associated with thalassemia.

• Genetic Testing

This test can identify specific gene mutations in the alpha or beta globin genes that cause thalassemia.