World Thalassemia Day 2021: Know all about Thalassaemia (Symptoms, Prevention & Facts)

What is Thalassemia?

 

Thalassemia is a genetic blood-related disorder. It inhibits the body’s ability to produce haemoglobin, a protein in red blood cells, that holds and transports oxygen throughout the body. Haemoglobin also gives red blood cells their red colour. The term thalassemia comes from the Greek word thalassa which means sea and the latin word emia which means blood. Thalassemia was first discovered in Asia and African populations, with the first reported diagnosis being made in Greece and Turkey. For this reason, it was often called Mediterranean Anemia. Thalassemia is a rare condition and before the medical cause became widely known, it was believed that thalassemia was an affliction meted out to children of sinful parents.

 

Those attitudes and beliefs have shifted as more information and data on the disease have become widely available.

 

Types of Thalassemia

 

 

5% of the Indian population, mostly young people, are diagnosed with Thalassemia today. Broadly, there are two types of Thalassemia based on which part of the haemoglobin protein is affected. The haemoglobin protein comprises of two parts - alpha and beta. A deficiency or mutation in either of these building blocks causes alpha or beta thalassemia.

 

1. Alpha Thalassemia

 

Alpha thalassemia is categorised as such when the alpha globin (a protein found in haemoglobin) has either mutated or is missing entirely.

 

2. Beta Thalassemia

 

A mutation that alters the production of the beta globin protein found in haemoglobin causes this type of thalassemia. The severity of the disorder will depend upon the extent of the mutation.

 

Thalassemia is a genetic disorder passed down from parents to children. The gene or trait responsible for causing thalassemia is perpetuated from one generation to the next in the same way that traits like eye colour, skin colour, hair, etc. are passed on. If you have inherited either alpha or beta thalassemia traits from either one parent, you have what is commonly called thalassemia minor or a thalassemia trait. Thalassemia minor expresses itself in the form of mild symptoms such as mild anemia, tiredness, and fatigue.

 

If you have inherited beta thalassemia traits from both parents then you will have thalassemia major which can cause severe anemia and in some cases even be life-threatening.

 

Symptoms of Thalassemia

 

There are varying degrees of symptoms for thalassemia major and minor conditions.

 

 

1. Thalassemia Minor or Thalassemia Traits

 

In case you have a thalassemia minor trait you are merely a carrier. This means that the symptoms associated with low haemoglobin such as tiredness, fatigue, etc. may affect you but not in any serious or life-altering way. It is possible to be a carrier and not discover that you have a thalassemia trait unless routine health check-up or tests specifically requested by a doctor reveal the condition.

 

2. Thalassemia Major

 

In individuals with thalassemia major, symptoms for the gene mutation become evident in childhood itself. They include weakness and fatigue, pale skin, slow patterns of growth, reduced bone mass, etc.

 

Treatment for Thalassemia

 

 

Treatment for thalassemia is focused on improving the quality of life of those affected by it. While the condition isn’t completely curable, due to advances in medical treatments and patient care, modern medicine can increase the life expectancy of an individual with thalassemia major.

 

1. Blood transfusions

 

Regular blood transfusions administered between two to five weeks help maintain adequate haemoglobin levels that allow the patient to carry out physical activities and day-to-day functions.

 

2. Stem Cell Transplant

 

Stem cells from the bone marrow of a donor are transplanted to the body of a thalassemia patient. The donor cells produce new healthy blood cells and maintain normal levels of haemoglobin in the body of the patient over time.

 

Apart from medical treatments, patients must observe a healthy diet, maintain a healthy weight and not over-medicate themselves with iron supplements an accumulation of which can lead to liver diseases. Patients must also avoid contracting infections that can weaken the body’s immunity and cause further complications.

 

World Thalassemia Awareness Day

 

Prevention is better than cure especially in the case of thalassemia. Education and awareness around the disorder and how it perpetuates itself is key in curbing the prevalence of thalassemia. World Thalassemia Day is celebrated on May 8 every year to draw attention to this disorder and individuals and groups that are affected by it.

 

As thalassemia is a genetic disorder, couples at risk of passing down thalassemia major to their offspring can seek guidance from doctors or genetic counsellors on reducing the risk of passing the gene down. Medicine also offers many different avenues such as gene therapy and prenatal testing to know the severity of thalassemia in case both parents are carriers.

 

Thalassemia day is an opportunity for many patient-led groups of families affected with thalassemia to advocate for support and research in better management of thalassemia by healthcare systems and society at large.

 

Conclusion

 

Genetic disorders are by definition difficult to avoid. But that doesn’t mean there isn’t hope for better treatment opportunities in the future. Protect your family by getting a mediclaim policy that helps you cover unavoidable medical and hospitalisation expenses. By comparing health insurance premiums, cover, and other features you can select the best health insurance plan for yourself and be prepared for all kinds of medical contingencies.