World Thalassemia Day: 4 Important Things You Need to Know

Observation of World Thalassemia Day began in 1994 to honor the struggles of the patients and make more people aware about this genetic condition. Every year, this day is observed to spread awareness about healthcare inequality and the measures to resolve them. For example, the World Thalassemia Day 2022 theme is - Be Aware. Share. Care: Working with the global community as one to improve thalassemia knowledge [1]. Thus, it is an appeal to people in general to raise awareness about the disease and contribute to the growth of the global community.

On World Thalassemia Day 2022, you can educate yourself about this condition and spread awareness. Thalassemia is an inherited disorder in which the patient has less than normal levels of hemoglobin. Because of the excessive destruction of red blood cells, thalassemia is also one of the usual anemia causes and makes a patient feel fatigued.

Read on to better understand the types, symptoms, and diagnostic process of thalassemia, and the treatment options you can get.

Causes of thalassemia 

While celebrating the World Thalassemia Day, it is important to know what causes this condition. Different types of thalassemia in the world are a result of mutations in the DNA of hemoglobin-producing cells. The molecules of hemoglobin are from the alpha and beta chains. Mutation in these chains can result in alpha or beta thalassemia. Here’s a look at both.  

Alpha thalassemia 

There are four genes that help make the alpha chain and you receive two genes from each parent. If you have one mutated gene, you will not show signs of thalassemia but become a carrier and may pass it on. In case of two mutated genes, you may experience mild symptoms resulting in a condition known as alpha-thalassemia trait. If there are three mutated genes, you will experience severe symptoms. Mutation of four genes is rare and may result in stillbirth.

Beta thalassemia 

Two genes make up the beta chain and you receive one gene from each parent. If you have one mutated gene, you may experience mild symptoms of thalassemia. This condition is known as beta thalassemia or thalassemia minor. In case of two mutated genes, you may experience moderate to severe signs of thalassemia. This condition is known as Cooley’s anemia or thalassemia major. Compared to other forms of thalassemia in the world, beta thalassemia is a fairly common condition [2].

Symptoms of thalassemia 

There are different types of thalassemia in the world and the symptoms depend on the severity as well as the type. While observing the World Thalassemia Day, take a look at the usual signs of thalassemia: 

• Weakness 
• Slow growth 
• Dark urine 
• Swelling in the abdomen 
• Deformities in facial bone 
• Fatigue 
• Poor appetite 
• Jaundice or yellowish/pale skin 
• Osteopenia or bone mass reduction

In some cases, kids show signs of thalassemia when they are born. But in other cases, children may develop and present thalassemia symptoms in the first two years. Some people who only have one affected gene may not show any signs. It is important to consult a doctor immediately if you notice signs of thalassemia. Untreated thalassemia can lead to complications such as infection, heart problems, enlarged spleen, and others.

Diagnostic process of thalassemia 

If doctors suspect that your child has thalassemia, they may prescribe a number of blood tests. With results of these tests, your doctor can reach a more accurate diagnosis. These tests reveal the number of red blood cells present in your body and also the abnormalities present in color, size, or shape. Blood tests can also help look for mutated genes with the help of DNA analysis.

Apart from the various blood test types, doctors may also perform prenatal testing. This helps them determine whether the baby has thalassemia and if so, how severe is the condition. Usually, the following two prenatal tests help diagnose thalassemia in fetus.

Chorionic villus sampling 

This test is generally done around the 11th week of pregnancy. Here the doctor extracts a sample of placenta for the purpose of evaluation.

Amniocentesis 

It is usually done around the 16th week of pregnancy. Here the doctor examines a sample of fluid surrounding the fetus.

Treatment options for thalassemia 

Thalassemia in the world is generally treated based on the type and severity of the condition. Your doctor may form a treatment plan that can include the following.

Blood transfusion 

In severe forms of thalassemia, patients require blood transfusion at frequent periods. Some people may also require blood transfusions every few weeks. However, over time, this form of treatment can have side effects caused by excess iron build-up in your body. This iron build-up can adversely affect your liver, heart, and other organs.

Chelation therapy 

With this treatment, you can reduce the iron build-up in your body. Your doctor may advise this therapy even if you don’t have frequent blood transfusions. This is because thalassemic patients can develop excess iron even with transfusions. Your doctor may give you oral medication or an injection.

Bone marrow transplant 

Also known as stem cell transplant, this can be a viable treatment option for thalassemia in some cases. It can help eliminate the need for life-long transfusions and medication to control iron build-up. A compatible donor for this procedure is usually a sibling.

In most cases there are no preventive options for thalassemia. Since it is a genetic condition, start talking to a genetic counselor if you are a carrier. They can give you guidance and information about various methods that can help you conceive a healthy child. Keep in mind that those with thalassemia may also experience depression. So, if you notice any symptoms, get doctor consultation by booking an online appointment on Bajaj Finserv Health.

The doctor may prescribe a blood test for depression to help with the diagnosis and even create the right treatment plan for you. This way, you can take better care of yourself or look after loved ones who have thalassemia. This World Thalassemia Day, spread awareness about the condition and make your and your family’s health a priority.