Today is World Thalassaemia Day, and do you know that India has the largest number of children with Thalassemia major in the world—about 1 to 1.5 lakhs and almost 42 million carriers of the ß (beta) thalassemia trait? About 10,000–15,000 babies with thalassemia major are born every year (nhm. 2024). Yes, Thalassaemia is way more common in India than you can even imagine. In this blog, we are going to inform you about this disease, its symptoms, and some of the ways to cope with it. Read this blog to increase awareness and connect with Neotia Getwel Multispecialty Hospital for 24*7 emergency care and the best medical assistance.

What is Thalassaemia?

Thalassemia is a medical condition that you get through inheritance. In this medical condition, the patient has fewer red blood cells and less haemoglobin than they should. It is important to note that haemoglobin is important because it lets your red blood cells carry oxygen to all parts of your body. As the patient has a lower amount of haemoglobin so, the patient develops anaemia which keeps him or her tired all the time.

Many of you may hear about terms such as Constant Spring, Cooley’s anaemia, or haemoglobin Bart’s hydrops fetalis. These are just different forms of this. The two types are alpha thalassemia and beta thalassemia. The terms alpha and beta refer to the part of haemoglobin the person is lacking.

If a patient has a minor amount of Thalassaemia, they can survive without medical support. However, if they have a major amount of Thalassaemia, then medical support is a must-have for them.

What is the cause of this disease?

Haemoglobin is made up of four proteins. There are two alpha globin chains and two beta globin chains. Each chain, both alpha and beta, contains genetic information, or genes, passed down from your parents.

Think of the genes as the remote controller that controls each chain and, as a result, your haemoglobin. If any of these genes are defective or missing, you'll have thalassemia.

Alpha-globin protein chains consist of four genes, two from each parent.

Beta-globin protein chains consist of two genes, one from each parent.

The thalassemia you have depends on whether your alpha or beta chain contains the genetic defect. The extent of the defect will determine how severe your condition is.

How does the Thalassaemia affect the patient’s body?

• Fatigue.
• Trouble breathing.
• Feeling cold.
• Dizziness.
• Pale skin.

What are the symptoms of Thalassaemia?

Any disease needs to be recognized at an early stage for better management. So, here we are mentioning some of the symptoms of Thalassaemia which will help you to understand.

• 1. Asymptomatic: If a patient misses one alpha gene, then they will not have any symptoms. However, if he/she misses two alpha genes or one beta gene, there are chances that he/she will remain asymptomatic, or they will develop mild anaemia as well.
• 1. Moderate symptoms: Beta thalassemia can cause mild to moderate symptoms. These symptoms may include:
• Growth problems.
• Delayed puberty.
• Bone abnormalities, such as osteoporosis.
• An enlarged spleen (the organ in your abdomen that plays a part in fighting infection).

• 2. Severe stage: Missing three alpha genes (Hemoglobin H disease) often causes anaemia symptoms at birth and leads to severe lifelong anaemia. Beta thalassemia major (Cooley's anaemia) often leads to severe anaemia symptoms noticeable by age 2. Symptoms of severe anaemia include those associated with mild to moderate disease. Additional symptoms may include:
• Poor appetite.
• Pale or yellowish skin (jaundice).
• Urine that’s dark or tea-colored.
• The irregular bone structure of the face.

What are the coping strategies?

Well, let us state very clearly that if one has severe Thalassaemia he/she will need medical assistance. The coping strategies are:

• 1. Blood transfusion: In this process, red blood gets injected into cells through a vein to restore normal levels of healthy red blood cells and haemoglobin. Transfusions are needed every four months with moderate or severe thalassemia, and with beta-thalassemia major, they will be needed every two to four weeks.
• 1. Iron chelation: Iron chelation is the process of removing excess iron from the patient's body. Due to blood transfusion, there are chances of increasing iron levels in the body and this excessive iron may damage organs. So, the frequency of iron chelation depends on the frequency of the blood transfusion. However, iron chelation can be done through oral pills as well.
• 1. Folic acid supplements can help your body make healthy blood cells.
• 1. A bone marrow and stem cell transplant from a compatible, related donor is the only treatment to cure thalassemia.

In this case, compatible means of proteins, called human leukocyte antigens (HLA), on the surface of their cells as the person receiving the transplant.

• 1. Luspatercept is an injection that’s given every three weeks and can help your body make more red blood cells.

Some common FAQs:

Is Thalassaemia curable?

Well, if the patient is able to replace the bone marrow from a compatible donor, then there is a huge chance of a cure. However, most people with thalassemia lack a suitable sibling donor.

Additionally, it is important to inform them that this procedure is risky and can cause a lot of complications in the body, including death. So, in most of the cases, patients do not attempt this.

How many years does a Thalassaemia patient live?

You should expect a normal life expectancy if you have mild thalassemia. Even if the patient has a severe amount of Thalassaemia and he/she continues the treatment, a normal life expectancy can be expected.

Can I prevent this disease?

Thalassaemia is a genetic disease, and it cannot be prevented. However, before conceiving, you guys can have genetic testing. This test will help you know whether you or your partner is asymptomatic or not. Knowing this information can help you plan your pregnancy.

Final words: Connect with Neotia Getwel Multispecialty Hospital for 24*7 emergency care and the best medical assistance.

Disclaimer

Though all attempts are made to provide correct information on the subject, inadvertent and typographical errors arising out of manual intervention cannot be ruled out. It is requested to bring any such discrepancies to the notice of the blogger for correction.