Thalassemia – understanding the disease

May 8th is World Thalassemia Day. We bring you information about the disease, its causes and prevention with help from Thalassemics India, a non-governmental organization working across the country, operating in close association with doctors, drug/equipment companies throughout the country and abroad, hospitals, Thalassemia associations & centers.

What is Thalassemia?

Thalassemia Major is an inherited blood disorder in which the affected children are unable to maintain Hemoglobin (Hb) in the normal range. Their bone marrow cannot form sufficient red cells and red cell survival is also reduced.

The situation in India:

It is estimated that about 3.4% of our population is carrier of thalassemia (or suffering from minor thalassemia). Every year 7000-10,000 children with Thalassemia Major are born in India. It is more prevalent in communities like Sindhis, Punjabis, Gujaratis, Marwaris, Bengalis, Saraswats, Gaurs etc.

How is Thalassemia caused?

Thalassemia is of two types: Minor and Major

• Thalassemia minors are people who carry one defective gene of Thalassemia .They are normal except that during stressful situations in life (like some serious surgery/ pregnancy etc) they may have low hemoglobin.
• Thalassemia Major is a serious blood disorder which causes severe anemia and related complications. This is caused by the presence of have two defective genes (acquired from each Thalassemia minor parent).

When both parents are Thalassemia minors or carriers, there is a 25% chance of birth of a Thalassemia Major child, 25% chance of a normal child and 50% chance of a Thalassemia Minor child.

Living with Thalassemia Major:

• Patients need regular blood transfusions every three to eight weeks to maintain normal hemoglobin levels.
• With regular transfusion and removal of iron (chelation therapy), Thalassemics can live and grow into adulthood. If complications are avoided, they can enjoy a productive life.
• The only curative treatment is bone marrow transplant.

Complications:

• Due to regular blood transfusions, there is a high chance of thalassemics being exposed to blood infections like HIV, HBV (Hepatitis B) and Malaria. If the donor’s infection is at an early stage (window period), the infection may not be even picked up during donor blood testing before transfusion.
• As a result of repeated blood transfusions, Thalassemia patients develop iron overload. Unfortunately the human body has no natural mechanism of excreting the excess iron from the body (the excess iron can only be removed by using iron chelator drugs). This excess iron gets deposited in and around the various vital organs of the body and ultimately causes organ failure.
• Thalassemics also often suffer from other diseases like jaundice, osteoporosis and heart problems.

 Prevention of Thalassemia:

 Thalassemia is a preventable disorder. If one knows ones thalassemia status, one can be in touch with ones doctor for further counselling and prevent the birth of a thalassemia major child. 

In the Mediterranean countries, where the prevalence of Thalassemia Minors is as high as 17%, public awareness campaigns have led to decreased Thalassemia Major births. In India, media needs to help spread the awareness. Prenatal testing for the Thalassemia gene should be made mandatory.

 How you can help:

• Help spread awareness about the disease.
• Get yourself tested for Thalassemia, especially if you planning for a child.Thalassemia patients regularly need blood.
• Do donate your blood whenever you can. Get your friends and family to do so too. Help hold blood donation camps in your neighbourhood, office, area.
• Support underprivileged Thalassemia children financially.
• Help the volunteers of the Thalassemics India.

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