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FAQ for thalassaemia

What is beta thalassaemia ?

Thalassaemia is an inherited condition affecting haemoglobin. Haemoglobin is the chemical inside the red blood cells which carries oxygen. Beta thalassaemia occurs when a person has inherited a gene where they are unable to make enough of the chemical needed for making enough haemoglobin. The word 'thalassaemia' originates from the Greek word 'thalasa' which means the sea.

How do you get beta thalassaemia ?

We all inherit many of our characteristics through the genes we take from our parents, for example, the shape of our nose, colour of our eyes, whether we are tall or short and also the colour of our hair. Similarly we inherit our haemoglobin type through the genes we get from our parents. We get one haemoglobin gene from our mother and the other from our father. The usual, most common haemoglobin is normal haemoglobin A. If a person inherits two haemoglobin A genes they will have haemoglobin AA (commonly written HbAA). Beta thalassaemia occurs as a result of a person inheriting a beta thalassaemia gene from one or both parents.

Beta thalassaemia trait (minor)

Some people inherit one haemoglobin A gene and one beta thalassaemia gene and have beta thalassaemia trait, sometimes called beta thalassaemia trait. These individuals' red blood cells are a bit paler and smaller than normal red blood cells, they are also a little anaemic, but this anaemia does not usually need treatment. However, they can pass on the beta thalassaemia gene (BThal) to their children.

What is beta thalassaemia major?

Beta thalassaemia major is the most serious of the beta thalassaemia diseases and occurs when a person has inherited the beta thalassaemia haemoglobin genes from both parents (one from each parent). If both parents pass on a beta thalassaemia gene to one or more of their children, the affected children will have beta thalassaemia major .

What happens if a person has beta thalassaemia major ?

Haemoglobin is essential for carrying oxygen (air) around the body. Without sufficient haemoglobin the body cannot carry oxygen (air) properly and after a while the body will not survive. 
The symptoms of beta thalassaemia major usually start when a child is about three to six months old. The infant starts to lose weight, have difficulty with keeping food down, starts vomiting, has diarrhoea, gets infections easily, fails to thrive and appears generally unwell. 
Individuals are very anaemic, especially if they are not given blood transfusion or they are due for their next transfusion. They will appear pale, feel tired and lethargic, breathless and have difficulty with minimum physical activity. There may be yellowing (jaundice) of the eyes and skin due to excessive breakdown of red blood cells. Growth may be delayed. With good medical care some of these symptoms can be prevented or treated.

What is the usual treatment for beta thalassaemia major ?

To be able to live, people beta thalassaemia major need regular blood transfusions, about every four to six weeks right through their life. Without this regular blood transfusion people with beta thalassaemia major cannot live very long and usually die before the age of ten years. But with regular blood transfusion they do very well and live into adulthood.

Is blood safe ?

People who need regular blood transfusions may worry about the risk of infections. Some infections can be passed on through blood transfusion but this is rare as all the blood donations are tested for various infections including HIV, Hepatitis B & C, Syphilis etc.To be extra safe people with beta thalassaemia major are also given the hepatitis B vaccination, to protect them against the most common hepatitis virus.

Can I be cured of beta thalassaemia ?

Thalassaemia can be cured by Bone Marrow Transplantation (BMT). Bone marrow is obtained from a matched unaffected brother or sister or unrelated donor and transplanted to the person with beta thalassaemia disease. It is best done when the child is very young. This treatment has been given successfully to many people world wide. However, this treatment is not without side effects which will be discussed once BMT is needed.

Family support:

Family support forms the most important and integral part of the whole treatment for thalasaemia. We will also help you get various financial helps and get you familiarise with the benefits patients of Thalassaemia have in INDIA. 
We also have a family support group of all the thalassaemia patients locally who can be useful for exchange of information.

 

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