Thalassemia: What You Need to Know About Symptoms and Diagnosis and Treatment

Thalassemia is a type of inherited blood disorder in which the body produces an abnormal form of haemoglobin, the protein that carries oxygen to the body's organs and tissues. Thalassemia is a chronic condition that requires lifelong management, and early detection is essential for effective treatment. In this blog, we will discuss the importance of pathology and radiology tests for the diagnosis of thalassemia. Before this aspect, let us shed light on the symptoms of Thalassemia:

Thalassemia Symptoms in Child

• Pale or yellowish skin.
• Fatigue.
• Facial bone deformities
• Weakness.
• Abdominal swelling.
• Dark urine..
• Slow growth.

Some infants show symptoms of thalassemia when they are born while others develop these signs in the first two years of life. Subsequently, individuals whose one haemoglobin gene is afflicted only, don’t suffer from thalassemia symptoms.

What are the Test to Thalassemia

Pathology tests play a crucial role in the diagnosis of thalassemia. The tests help in identifying the type and severity of thalassemia by analysing the blood samples.

The most common pathology tests used for the diagnosis of thalassemia are Complete Blood Count (CBC) and Haemoglobin Electrophoresis -  

• CBC is a test that measures the number of red blood cells, white blood cells, and platelets in the blood. In thalassemia, the red blood cell count is low, and the mean corpuscular volume (MCV) is decreased.
•  Haemoglobin Electrophoresis is a test that separates the different types of haemoglobin present in the blood. In thalassemia, the test shows an abnormal ratio of haemoglobin A to haemoglobin A2.

Radiology tests such as Magnetic Resonance Imaging (MRI) and Computed Tomography (CT) are also used for the diagnosis of thalassemia. These tests are used to evaluate the spleen and liver, which are often enlarged in patients with thalassemia.

• MRI is a non-invasive test that uses a magnetic field and radio waves to create detailed images of the body's organs and tissues.
• CT Scan uses X-rays to create detailed images of the body's internal structures. Both tests help in identifying the extent of organ damage and can assist in developing a treatment plan.

Apart from the diagnosis, pathology and radiology tests are also used for monitoring the progression of thalassemia and evaluating the effectiveness of treatment. 

Regular CBC and Haemoglobin Electrophoresis tests help in monitoring the haemoglobin levels, red blood cell count, and MCV. MRI and CT scans are used to evaluate the effectiveness of treatment in reducing the size of the spleen and liver.

In conclusion, thalassemia is a genetic blood disorder that requires lifelong management. Early diagnosis and effective treatment are essential for managing the condition. Pathology and radiology tests play a crucial role in the diagnosis, monitoring, and evaluation of thalassemia. Let us create awareness about thalassemia and encourage people to get tested early for early diagnosis and effective management.

At Manipal TRUtest, get complete diagnosis of Thalassemia with quality-assured tests such as HB Electrophoresis, CBC, Iron Studies and ESR with fast and accurate results.