There is only one cure for Thalassemia major at present, which is a bone marrow transplant with a suitable donor.
Dr. Vikas Dua and Dr Mansi Sachdev
World Thalassemia Day: Thalassemia is an inherited blood disorder (passed down from parents). Under this condition, the body makes an abnormal form and inadequate amount of hemoglobin. The disorder results in destruction of red blood cells in excess amounts, which leads to anemia. Thalassemia is inherited from parents, meaning that at least one of your parents must be a carrier of the disorder. Two main forms of thalassemia are there that are more serious. One is alpha thalassemia in which at least one of the alpha globin genes has an abnormality or mutation. Another is beta thalassemia, in which the beta globin genes are affected. According to estimates, in India more than 10,000 children are born every year who suffer from thalassemia.
There is a need to create awareness about thalassemia in society because in our country, compared to the awareness of most discussed diseases like diabetes, heart diseases, cancer, etc, most people have not even heard about Thalassemia. As people are ignorant of the disease, patients often do not go for diagnosis and end up transferring faulty genes to their children. If both parents are thalassemia minor, then there is a 25% chance that the offspring will be affected by thalassemia major.
It is of utmost importance that we create awareness and encourage parents to get tested for thalassemia ideally before marriage/ or at least before conception. Though thalassemia runs in families with a history of thalassemia, it is beneficial for everybody to know their thalassemia status.
Children who have beta thalassemia major require blood transfusion at regular intervals. So these children instead of being a “bundle of joy”, become a burden for their parents as this also has a lot of financial implications for the family. Frequent blood transfusion poses a lot of complications including risk of infection, iron overload, endocrine problems, etc.
Only cure for Thalassemia major
There is only one cure for Thalassemia major at present, which is a bone marrow transplant with a suitable donor. As a preventive strategy, it has been advocated that premarital screening be done. Though it is a simple blood test that has been available for decades, for some reason this has not been very successfully implemented. The blood tests that can make a diagnosis in parents is a complete blood count (CBC) and high-performance liquid chromatography (HPLC). By doing these tests, we can confirm if the parents are carriers and accordingly inform and educate them if they are at high risk of having a child with thalassemia major.
It is essential for the general public to be aware of this condition and get these simple tests done as this could have a bearing on their family’s future. If someone has a loved one who is affected by Thalassemia major, then they should consider opting for the only cure i.e. bone marrow transplant.
The columnists are Additional Director and HOD, Pediatric Hematology/Oncology and Bone Marrow Transplant, Fortis Hospital, Gurgaon and Consultant, Pediatric Hematology/Oncology/BMT, Fortis Hospital, Gurgaon. Views expressed are their own.