Prevent Thalassaemia

People who think they may have or be carriers of Thalassemia can go to their doctor or clinic for the latest information and for testing. Counselors then can help them make plans about planning their families. The disease can’t be prevented at this time, but health education, testing for the trait, genetic counseling, and prenatal diagnosis can provide families with full medical information to help them have healthy children. Awareness programmes designed at prevention of Thalassaemia babies are a must.

1. Carrier Screening 2. Pre-natal detection

Carrier Screening and Centers in Mumbai are:
Wadia Children Hosp. Parel, Tel: 412 97 86
Project Thalassaemia, Cumballa Hill Hosp., Blood Bank, Tel: 380 33 36
I.C.M.R., 13th Floor Multistoreyed Bldg., K.E.M. Hosp. Parel, Tel: 413 8518
Sion Hospital Tel.: 407 6381
We Care Trust Tel: 62315 20

Prenatal Detection
If both partners are identified as Thalassaemia Minor, pre-natal diagnosis should be availed with Hematologist specialising in these tests, called CHORIONIC VILLAS SAMPLING (CVS) normally done between 10-12 weeks of pregnancy. Another option is AMNIOCENTESION normally done between 1 -1 weeks of pregnancy.

What research in Thalassemia is taking place?
Treatment today is more advanced then what it was. Scientists are working on ways to eliminate excess iron from the body in order to check or delay iron overload. They are developing and testing the effectiveness of oral iron-chelating drugs (L1), which could significantly simplify treatment. They are also developing an helpful type of gene therapy that may one day present a cure for Thalassemia. The results from the L1 have been excellent except of one particular side effect called “Neutropenia” which reduces the ability of the body to cope with infections so the patient has an increased threat at infections that can be fatal. Gene therapy may involve inserting a normal beta globin gene (the gene that is abnormal in this disease) into the patient’s stem cells the immature bone marrow cells that are the precursors of all other cells in the blood. Another form of gene therapy may involve using drugs or other methods to reactivate the patient’s genes for fetal hemoglobin. All humans produce a fetal form of hemoglobin before birth; after birth, natural genetic switches “turn off” production of fetal hemoglobin and “turn on” production of adult hemoglobin. Scientists are seeking ways to trigger these so that they can make the blood cells of patients with Thalassemia produce more fetal hemoglobin to replace the deficiency of mature hemoglobin. Early studies of rare individuals with genetic traits that allow them to produce only fetal hemoglobin show that they are generally healthy, indicating that fetal hemoglobin can be an excellent substitute for adult hemoglobin. Also, improved bone marrow transplant methods may lead to wider use of the technique as a treatment for Thalassemia. Bone marrow transplants have cured some cases of Thalassemia but they are not widely used.