Rajlaxmi Basu
Medical College of Kolkata, India
Title: Combating thalassemia by a genetic tool: Prenatal diagnosis from chorionic villi sample
Biography
Biography: Rajlaxmi Basu
Abstract
Congenital and hereditary genetic diseases are becoming a significant health burden in India, and hence there is a need for adequate and effective genetic testing and counseling services. In India,.
As there is no substantive cure for thalassemia, the financial burden of treatment and the mental trauma to the affected and their families are very severe, subcontinent. Prevention of the birth of new thalassemic babies is, therefore, important to control the occurrence of this disease. Prevention can be done by increasing the awareness and carrier testing at a mass level. Unfortunately, lack of awareness and an indifferent attitude towards thalassemia is very common among people of lower socio-economic group with grave consequences.
Though there is a definite need for carrier screening in our country, it is hard to draw a consensus regarding the time of screening. Due to lack of education and public awareness about the disease, even being a carrier status often becomes a stigma. Various options for preventing the spread of thalassemia are (i) screening of school going children (ii) premarital screening (iii) extended family screening for carriers (iv) routine antenatal screening in early pregnancy between 8-12 weeks. The first four options are logistically extremely difficult in a country like India with a very large population. The most feasible option is to test the mother antenatally (in early pregnancy) preferably in the first trimester. The parents are usually cooperative and would usually agree to get any tests done for the well-being of their child. Presently in the state of West Bengal (India) prenatal genetic screening and counseling has been given priority by the Government to eradicate thalassemia. In 2010 the West Bengal government started a program named “State Thalassemia Control Project( STCP)” with the aim of creating awareness about thalassemia and the detection of thalassemic patients as well as carriers