World Thalassemia Day

8^th May is being celebrated as World Thalassemia Day round the globe. The day is dedicated to all the Thalassemic patients and their care takers who have never lost the hope for life and to all the scientists who have never given their hope, efforts and tenancy in finding the permanent treatment for the disease.

The day also marks the importance of blood donation and educates people that how the donation of blood will help millions of people living with Thalassemia worldwide.

According to the reports published by WHO, more than 90% of the patients dealing with Thalassemia residing in western countries leads a normal life. In India, about half of all the patients die before they reach their adulthood phase. Approximately 3.9% of Indian population is living with Thalassemia.  

What is Thalassemia?

Thalassemia is a genetic blood disorder under which the body makes an abnormal form of hemoglobin. Hemoglobin is the protein molecule present in red blood cells which carries oxygen.

Thalassemia leads to the excessive destruction of the red blood cells, which ultimately leads to Anemia. Anemia is a medical condition under which the body does not have sufficient normal and healthy red blood cells.

Thalassemia is an inherited disease which is either caused by genetic mutation or eradication of certain key gene fragments.

Symptoms of Thalassemia:

The symptoms of Thalassemia may vary from person to person. Mentioned below are some of the common symptoms, which if you may encounter your need to consult your doctor as soon as possible.

•   Deformities in bone, especially in the face
•   Dark color urine
•   Delayed development and growth
•   Excessive tiredness and fatigue
•   Pale or yellow color of the skin

It’s not mandatory that everyone will have visible symptoms of Thalassemia. There are certain cases where the symptom of the disease shows up later in childhood or adolescence.

Causes of Thalassemia:

Thalassemia is majorly caused by the alteration in the DNA of cells which makes the hemoglobin. The transfiguration associated with Thalassemia is passed from parents to children. Thalassemia interrupts the normal production of hemoglobin and healthy red blood cells. This interruption leads to anemia. Due to anemia, the blood does not have enough red blood cells to carry oxygen to the various tissues of the body and thus leaves the body fatigued.

Types of Thalassemia:

The type of Thalassemia depends on the number of genes transfiguration we inherit from our parents and on which part of the hemoglobin molecule is primarily affected by transfiguration. The more transfigured the genes, more severe is the Thalassemia. Hemoglobin molecules are mainly made of alpha and beta parts which can be affected by transfiguration.

Alpha Thalassemia:

Four genes are involved in the formation of alpha hemoglobin chain. We inherit two from each of our parents. If we inherit:

• 1 mutated gene- this means that there will be no sign and symptoms for Thalassemia but yes we are a carrier of the disease and thus can pass it to our kids.
• 2 mutated genes- there will be mild sign and symptoms reflecting the disease. This condition is termed as alpha-thalassemia trait.
• 3 mutated genes- the sign and symptoms will vary from moderate to severe.
• 4 mutated genes- this type is very rare to find. In these cases the affected fetuses deal with severe anemia and are generally stillborn. Babies who are born with this condition frequently die shortly after the birth or might require lifelong transfusion therapy. In a very rare condition, infants who are born with this condition are generally treated with transfusion and stem cell transplant, which is also known as bone marrow transplant.

Thalassemia Minor:

In the formation of beta hemoglobin chain, two genes are involved. We inherit one from each of our parents. If we inherit:

• 1 mutated gene- with one mutated gene, the person will experience mild sign and symptoms. This condition is known Thalassemia Minor or Beta-Thalassemia.
• 2 mutated genes- the person with this disorder will experience moderate to severe sign and symptoms. This condition is known as Thalassemia major, or Cooley anemia. Infants who are born with two defective beta hemoglobin genes are generally healthy at birth but within 1^st two years of life they do develop signs and symptoms. A milder form is known s Thalassemia intermediates, which may also occur with two mutated genes.

 Ways to manage Thalassemia:

We are well aware of the fact that Thalassemia is a genetic disorder, which can’t be prevented in anyway. Though there are certain methods which are mentioned below can help in the prevention of complications of the disease.

• Hepatitis vaccines and medical care along with diet and regular exercise is helpful.
• People who have thalassemia should prefer a low fat, plant based diet.
• If one has high iron level in blood, then the person needs to limit iron rich foods such as fish and meats.
• Try to avoid fortified cereals, breads and juices as they contain high iron levels.
• Before making any dietary change, consult your doctor primarily.
• Avoid going for heavy exercises as heavy exercises makes the symptoms worse.
• Opt for moderate intensity workouts such as walking, bike riding, swimming and yoga.

“If by any chance you or any of your family members have thalassemia, talk to your doctor prior planning a family. Prior consulting and getting diagnosed will help you to understand the chances of passing on the disorder to your children and will help you to have an unaffected child through prenatal testing.”, says Dr. Om Kumar Gupta, Senior Consultant - Haematology, Metro Hospitals and Heart Institute, Noida, UP.

Metro Group of Hospitals has the most advanced facilities for the diagnosis of Thalassemia. Our expert doctor adopt a personalized approach in the treatment of such patients. More appointments and more information, call: +91 99104 92867 or e-mail: metro@metrohospitals.com