Thalassemia

Dear Doctor,
We would like to share with you certain facts on the issue of "Thalassemia and its Prevention";

1. Every year about 1,00,000 children Thalassemia Major are born world wide, of which 10,000 are born in India only! That means every hour a child is born with Thalassemia major in our country.

2. Although Thaiassemics are found in almost every community, carrier rates are higher in certain communities like Sindhi, Punjabi, Muslims, Bhanushali, Kutchis, Lohana, Mahar, Koh, Agri, Gowda, Lingayat, etc.

3. Despite all of the modern medical advances, early death remains the ultimate outcome of most Thalassemic children. Symptomatic treatment is expensive and unsatisfactory. [Regular blood transfusion and iron chelation: nearly Rs. 1 lac per year excluding hospital expenses)

4. In spite of such high prevalence, nobody cares to know their (and their future partner's) Thalassemia carrier status before marriage!

5. This missed opportunity can he caught if women dining pregnant., can be. so-et-fled for ThalAssemia, The most feasible time is in early

Pregnancy, preferably first trimester, when the parents are receptive and would usually agree to get any tests &mu tor the well king of their baby It the mother is found to be a carrier (trait/minor), her husband should he tested for carrier status and if he is also a carrier, prenatal diagnosis can he offered after proper genetic counseling (Thalassemia is autosomal recessive, can be transmitted to baby only it both are carriers: A child of two carriers has a 25% chance of receiving two trait genes and developing the disease). If she is negative, it is not necessary to screen her husband.

6. The screening can he done by knowing Hemoglobin A2 (HbA2) & HbF fraction of total hemoglobin by Fib electro-phoresis-HPLC method. (Gold Standard Test) BY this we can know whether the person is a Thalassemia carrier or not! We can also get information regarding other diseases like sickle cell trait!

7. 1HbA2t (for Thalas,enna trait) is a very important test in the Antenatal profile especially in females with Microcytic hypochromic, anaemia picture and family history of Thalassemia or other hemoglobin related disorders One should suspect Thalassemia in a female it her lib remains Its despite adequate iron therapy/diet or it she belongs to one of the high risk group.