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Thalassemia is an inherited blood disease which causes defective red blood cell production leading to low haemoglobin and such patients need lifelong blood transfusions to cope up with life. There are two types of thalassemia - Alpha and Beta. The affected children with both defective globin genes are called as Thalassemia major who needs regular blood transfusions, and these cases can be fatal before 30 years of age whereas the person with one defective globin gene and one normal gene are thalassemia carriers and as such carriers remain asymptomatic with normal life expectancy.
Fact: Young couples from the 'at risk' population (some communities have a higher prevalence of this gene) and the thalassemia trait (carrier) can be detected by haemoglobin electrophoresis by HPLC (detects raised HbA2 > 3.5). The exact beta gene mutation can be detected by DNA analysis. During early pregnancy in such at risk thalassemia carriers, the DNA mutation analysis from the chorionic villus biopsy or amniotic fluid analysis can help check if the index fetus is thalassemia major. If so, we could offer medical termination of pregnancy (depend upon cultural and religious belief of the couple) to prevent birth of a thalassemia major child. Thus, Thalassemia major is preventable.
Fact: People with thalassemia minor can get married to each other as long as they know of each other's thalassemia status and their DNA mutation testing. One can also go for the pre-implantation genetic testing to select the embryo (PGTM pre-implantation embryonic genetic testing) that does not have the thalassemia gene. This could ensure a non-thalassemia major birth despite both being thalassemia carriers. The chorionic villus biopsy or amniotic fluid analysis will help determine if the foetus is a thalassemia major.
There is only a 25 per cent chance that the foetus could be thalassemia major, but a 50 per cent chance that it could be thalassemia minor like either of the parents. In the remaining 25 per cent chance, the child could be normal. Which means that 75 per cent of the time there is no fear of a thalassemia major birth.
Fact: If a thalassemia major child is transfused with leucocyte filtered blood regularly, these children can reach adulthood in good health. Simultaneously, one must look at levels of ferritin for iron overload and oral iron chelation agent (medicines that remove excess iron from the blood though the urine). Checking for early organ damage by MRI of the heart, pancreas and liver should also be performed to get the best results for a proper growth. These steps can still give good quality of life to thalassemia major patients. Bone marrow transplant and gene therapy are other treatment options for Thalassemia major patients.
Fact: Along with blood transfusions, allogeneic bone marrow transplantation (matched related or matched unrelated donor who is 10/10 HLA matched) can 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.
Also, there are new novel therapies like Luspartacept that can help improve the haemoglobin of thalassemia major. This can make them relatively transfusion independent, but is expensive, needs long term treatment.
The article is contributed by DR. Ganesh Jaishetwar, Consultant Hematologist, Hemato-Oncologist & Bone Marrow Transplant Physician, Yashoda hospitals, Hyderabad.
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