Essay On Thalassemia

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25 million Indians carry the beta thalassemia gene. Beta thalassemia is found in certain communities like Punjabi, Sindhi, Bengali, Gujrati etc. Approximately 9000 thalassemic children are born in India every year. Many of them die due to lack of proper treatment and awareness. It was observed in 1975 that β-thalassemia is the most common hereditary disease in India.
The proper treatment of a thalassemic child includes regular blood transfusion to maintain haemoglobin at 10, chelation therapy with desferal to maintain iron levels and reduce iron load. They should also be given hepatitis B and pneumococcal vaccine. The total cost is about 1.25 lakhs
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However this is not very successful in India due to social stigmas. A person who is a carrier is generally faces problem in getting married. The whole family faces the humiliation. In India mostly arranged marriages are preferred and people believe in getting kundlis rather than undergoing genetics test to prevent future complications.
Usually the one partner should be tested first and if he/she is the carrier then the other one should be tested. If both are carriers then a prenatal screening should be done. Pregnant women should undergo this screening to prevent thalassemia on large scale.
1. A simple screening test, Naked Eye Single Tube Red Cell Osmotic Fragility Test (NESTROFT) based on the concept of lower osmotic fragility of red blood cells, is used for the detection of beta-thalassemia.
2. Screening can also be easily done by measuring the red blood cell indices using an electronic cell counter.
5.2. Premarital testing for finding out if the family carries the mutated genes: (1) Test was done in the extended family if a thalassemic patient in relation. (2) Unmarried couples who want to get

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