World Thalassemia Day 2022: Doctor explains myths and facts about this blood disorder

Thalassemia is an inherited blood disorder passed to a child by either of the parents. It causes defective red blood cell production leading to low haemoglobin and such patients require lifelong blood transfusion 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, Yashoda hospitals Hyderabad, told, “The affected children with both defective globin genes are called as ‘thalassemia major’ who need 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 such carriers remain asymptomatic with normal life expectancy.”

One major purpose to mark this day is to debunk myths associated with thalassemia and help the patients lead a normal life. Some of the various myths and corresponding facts, as laid out by Dr Jaishetwar are:

Myth: Thalassemia is not preventable

Fact: Some communities have a higher prevalence of this gene. According to the health expert, the thalassemia trait in young couples belonging to such ‘at risk’ population can be detected by haemoglobin electrophoresis by HPLC. The beta gene mutation is subjected to detection 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 (depending upon cultural and religious belief of the couple) to prevent birth of a thalassemia major child. Thus, Thalassemia major is preventable,” said the hematologist.

Myth: Thalassemia carriers should not get married to each other and they will always have a thalassemia major child

Fact: As long as people with thalassemia minor know of each other’s thalassemia status and their DNA mutation testing, they can get married to each other. To ensure a non-thalassemia major birth, one can go for the pre-implantation genetic testing, PGTM (pre-implantation embryonic genetic testing) to select the embryo that does not have the thalassemia gene.

“There is only a 25 per cent chance that the foetus could be thalassemia major, but a 50 percent 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,” the doctor explained.

World Thalassemia Day 2022: Ask for a thalassemia screening test. (Source: iStock / Getty Images Plus)

Myth- There is no treatment for thalassemia major

Fact: “If a thalassemia major child is transfused with leukocyte filtered blood regularly, he or she can reach adulthood in good health.”

Additionally, the expert also mentioned the importance of looking at the level of ferritin for iron overload and medicines that remove excess iron from the blood through the urine which includes the oral iron chelation agent.

He said in order to get the best results for a proper growth, proper check-ups for early organ damage by MRI of the heart, pancreas and liver should also be performed. This would ensure the thalassemia patients a good quality of life. Bone marrow transplant and gene therapy are other treatment options for thalassemia major patients, 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 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. He mentioned ‘gene therapy’ for curative potential for thalassemia major.

Dr Jaishetwar also mentioned novel therapies like Luspatercept that can help improve the haemoglobin of thalassemia major. He said this can contribute to making them relatively transfusion independent, however, it is expensive and needs a long-term treatment.

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