
Thalassemias are hereditary disorders characterized by defective production of haemoglobin. This leads to low production and excessive destruction of red blood cells. About 100,000 babies worldwide with severe forms of the disease each year, of about 8000- 10,000 are in India alone.
How is the disease transmitted ?
All forms of thalassemia are transmitted only through heredity. It cannot be caught from another child who as it. The disease is passed on through parents who carry the thalassemia gene, but do not suffer from it. When two carriers become parents, there is a 25% of their child having a severe form of disease(thalassemia major). There is 50% chance that the child will become a carrier like its parents(thalassemia minor) and 25% chance that the child will be completely free of the disease or carrier state.
How does thalassemia affect a child ?
Most of the children with thalassemia appear to be healthy at birth. But during the first year or second year life they become pale, listless and fussy, have a poor appetite and grow slowly. Without treatment, the spleen, liver and heart soon become greatly enlarged. bones becomes thin and brittle, face becomes distorted. Heart failure is the leading causes of death among children with untreated thalassemia major.
What is the treatment ?
The use of frequent blood transfusion every 3 to 4 weeks, is the only treatment of thalssemia major.. The repeated blood transfusions lead to a buildup of iron in the body which can damage the heart, liver and other organs. An iron binding agent can help to rid the body of excess iron but its expensive treatment with a lot of complications. Children with thalassemia major who are treated with frequent blood transfusions and iron chelation live to 20 to 30 years rarely. Thalassemia has been cured using bone marrow transplants.. This form of treatment is available for a small minority of patients who have a suiatable bone marrow donor.
Test for Thalasemia Blood tests can show whether an individual has thalassemia or is a carrier. Early diagonsis is important so that treatment can prevent as many complications as possible.
The disease can be prevented by a program of health education, testing of carriers, genetic counselling and avoiding marriage between two carrier individuals to help them have healthy children.
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