Thalassemia

Thalassemia

What is Thalassemia?

Haemoglobin is an essential element that is found in red blood cells. It plays the vital function of transporting oxygen through the cells to the body. Thalassemia involves decreased and defective production of haemoglobin or red blood cells (in which case it takes the form of anaemia). Another form of Thalassemia includes the destruction of red blood cells; a condition known as microcytosis. In its mildest form, Thalassemia results in anaemia, while the severest form of Thalassemia could require a lifetime of regular blood transfusion.

Thalassemia Minor

Many people have the Thalassemia gene in them, but it is dormant. Such people are said to have Thalassemia Minor. People with Thalassemia Minor are silent carriers of the Thalassemia trait. They are not affected in any way by the trait and go on to lead perfectly normal lives. The trait may be passed from generation to generation, without carriers being aware that they possess the trait.

Thalassemia Major

All Thalassemia Major patients require frequent blood transfusions. Some patients may require a transfusion every 3 weeks. The patients are infused with fresh blood with a normal haemoglobin level, so as to carry out the function of providing oxygen to the body. However, this leads to an excess of iron as the body is unable to break it down and naturally eliminate it. Thus, the patient would also require undergoing a more painful method of treatment, which involves attaching a needle to an area under the skin almost everyday for twelve hours, to draw out the iron with the help of a drug and a pump.

Psychological Counselling

The shock that the family unit receives as a whole upon hearing that their child suffers from a major disease can be very traumatic. In addition, a person with Thalassemia requires frequent medical care and attention as Thalassemia can lead to many secondary disturbances. Regular check-ups, constant hospitalisation, dealing with possible diabetes, osteoporosis, jaundice, cardiac problems- are all a part of the illness, and can lead to extreme feelings of guilt, anxiety and depression for the parents. Children too, when they enter adolescence, will have to come to terms with life or death. Thus, psychological counselling is strongly recommended for the patient and the parents.

Here are some important facts at a glace:

Thalassemia is a genetic disease.

Thalassemia Major is present at birth, and the child cannot outgrow it.

Thalassemia cannot be 'contracted'. It is not infectious or contagious.

Both parents need to have Thalassemia trait in order for the child to contract it.

If a person with a Thalassemia trait marries another such person, the offspring has a 25% chance of developing full blown Thalassemia.

If only one parent has the trait, the trait may be passed on to the child.

A person with a Thalassemia trait shows no symptoms except perhaps for anaemia. Iron supplements don't help, and should not be taken.

Having a Thalassemia trait does not make a person susceptible to any diseases. This trait does not harm the person in any way, and the person can live a perfectly normal life without even being aware that he has a Thalassemia trait.

A Thalassemia trait will NOT develop into the full blown disease at any stage in life.

TESTS

Annual screenings for Hepatitis need to be undertaken. Children above the age of 10 should start thyroid testing, diabetes testing (oral glucose tolerance), pubertal development (girls age 12, boys age 14). At 15 years biannual bone density evaluations begin.

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