Beta Thalassemia (23 Mutations)

Beta-thalassemia is an inherited blood disorder that is passed down from one or both parents. This condition decreases the production of haemoglobin in the body.

Haemoglobin is found in red blood cells and helps carry oxygen to cells throughout the body. People diagnosed with Beta-thalassemia have low levels of haemoglobin, which causes a lack of oxygen in the body. They also have a shortage of red blood cells, which can lead to fatigue, anaemia, and pale skin. Such people are at a higher risk of forming abnormal blood clots.

The treatment for this disorder includes regular blood transfusions, chelation therapy, and stem cell transplant. Regular testing can allow the patients to access the treatment at the earliest.

People with thalassemia often get more than an adequate supply of iron in their bodies due to blood transfusions or the disease itself. This can cause serious damage to the heart, liver, and the endocrine system, such as glands producing regulatory hormones.

The test consists of a complete blood count (CBC) analysis. This blood test measures haemoglobin and the quantity and size of the RBCs. People with beta-thalassemia generally have smaller-than-usual RBCs.

Along with the CBC, the test includes a reticulocyte count to detect whether your bone marrow is producing sufficient RBCs. Haemoglobin electrophoresis is also used to diagnose beta-thalassemia.

Though symptoms may vary for different people, children can generally develop life-threatening anaemia. They can also experience decreased weight gain and delayed body growth and may develop yellowing of the skin, also known as jaundice.

When Should You Get Tested?

If either or both the parents have contracted the disorder, it most definitely will be passed down to the child. Moderate and severe beta-thalassemia is usually detected in early childhood within the first two years of life. A blood test can help confirm the diagnosis. If you observe symptoms like bone abnormalities, or an enlarged belly or spleen, you must undergo the test immediately.