Thalassemia is an inherited blood disorder that is passed from either parent to the child. It causes defective red blood cell production leading to low hemoglobin levels and such patients require lifelong blood transfusions to cope with their lives. There are two types of thalassemia: alpha and beta. Dr. Ganesh Jaishetwar, Consultant Hematologist, Hemato-Oncologist, and Bone Marrow Transplant Physician at Yashoda Hospitals, Hyderabad, told indianexpress.com“Children affected with both defective globin genes are called ‘thalassemia major’ and need regular blood transfusions and these cases can be fatal before the age of 30, while the person with one defective globin gene and one normal gene they are ‘thalassemia carriers’. ‘ and such carriers remain asymptomatic with a normal life expectancy.”
One of the main purposes of this day is to debunk the myths associated with thalassemia and help patients lead a normal life. Some of the various myths and corresponding facts, as expounded by Dr. Jaishetwar, are:
Myth: Thalassemia cannot be prevented
Fact: Some communities have a higher prevalence of this gene. According to the health expert, the thalassemia trait in young couples belonging to this ‘at risk’ population can be detected by HPLC hemoglobin electrophoresis. The beta gene mutation is screened by DNA analysis.
“During early pregnancy in such at-risk thalassemia carriers, DNA mutation analysis of chorionic villus sampling or amniotic fluid analysis can help check whether the index fetus has thalassemia major. If so, we might offer medical termination of the pregnancy (depending on the cultural and religious beliefs of the couple) to prevent the birth of a child with severe thalassemia. Therefore, thalassemia major is preventable,” said the hematologist.
Myth: Thalassemia carriers should not marry each other and will always have an older child with thalassemia
Fact: As long as people with thalassemia minor know each other’s thalassemia status and their DNA mutation tests, they can marry each other. To ensure a larger delivery without thalassemia, you can opt for preimplantation genetic testing, PGTM (preimplantation embryonic genetic testing) to select the embryo that does not have the thalassemia gene.
“There is only a 25 percent chance that the fetus could have thalassemia major, but a 50 percent chance that it could have thalassemia minor like either parent. In the remaining 25 percent chance, the child could be normal. Which means that 75 percent of the time there is no fear of a delivery with thalassemia major, “explained the doctor.
Myth: There is no treatment for thalassemia major
Fact: “If a child with thalassemia major receives regular leukocyte-filtered blood transfusions, he or she can reach adulthood in good health.”
In addition, the expert also mentioned the importance of monitoring the ferritin level for iron overload and medications that remove excess iron from the blood through urine, including oral iron chelating agent.
He said that in order to get the best results for proper growth, adequate checks for early organ damage should also be done using MRI of the heart, pancreas and liver. This would ensure patients with thalassemia a good quality of life. Bone marrow transplant and gene therapy are other treatment options for patients with thalassemia major, according to the health expert.
Myth: Thalassemia major cannot be cured .
Fact: According to the expert, there are ways to cure thalassemia major. He said: “Along with blood transfusions, allogeneic bone marrow transplantation may be a curative option for thalassemia major.” Another important therapy with curative potential for thalassemia major is gene therapy, which has shown promise in phase II trials. He mentioned ‘gene therapy’ for the curative potential of thalassemia major.
Dr. Jaishetwar also mentioned novel therapies such as Luspatercept that may help improve hemoglobin in thalassemia major. He said this may help make them relatively transfusion-independent, however, it is expensive and requires long-term treatment.