Prof. Sanjeev Kumar Digra
Sachin (name changed) is very happy these days. He has been engaged recently to Reena (name changed), but deep down in his heart, he is a little worried. He confided this to his mother. “Mom, you know that I am a thalassaemia carrier. I want to disclose this to Reena before getting married. I just want her to get herself tested for the carrier status.” His mother got angry and told him not to do anything like this. She was afraid that this might lead to Reena’s family wanting to break off the engagement. Sachin dropped the idea, but time and again, this thought kept troubling him. Finally, he decided to discuss this issue with his physician. His physician encouraged him to discuss it with his fiancée. The physician’s advice was simple: “If she really loves you and values this engagement, she will understand and will do the needful.” Sachin showed courage and invited Reena for coffee. He started with a straight question, “Reena, do you know anything about thalassaemia?” The reply was negative. He said okay I will describe a little bit about Thalassemia. Reena got irritated, “What nonsense are you talking about? You are on a date, and you are talking about diseases.” He calmly replied, “I am serious. This has got to do something with our relationship and future.” She asked him to go ahead and listened patiently. Sachin started describing the individuals with thalassaemia major. Thalassaemia major patients usually start becoming anaemic by the age of six months. They require regular blood transfusions about 2 to 3 times per month throughout their life. Regular blood transfusions lead to iron overload in the body. This excessive iron starts getting deposited in the vital organs such as the liver, heart, endocrine glands, etc., and ultimately can cause liver damage, cardiomyopathy and various endocrine problems such as diabetes, hypothyroidism or delayed puberty. If not managed properly, these individuals develop peculiar haemolytic features in the form of prominence of cheekbones and skull bones. It also leads to depression of the nasal bridge, pallor, jaundice, poor growth and absence or delayed development of secondary sexual characteristics.
Reena asked, “But why are you telling all this to me. How does this concern us?” Sachin replied, “Let me complete. There is another entity known as thalassaemia minor or carrier. Thalassaemia carriers don’t suffer from any disease. They are as normal as we are. They can be detected only by testing. They only have mild anaemia, but the only risk is that they can pass on thalassaemia major disease to their offspring if both parents are thalassaemia carriers. I just want to disclose that I am a thalassemia minor, or you can say a carrier.” “So what?” quipped Reena. Sachin, in a serious tone, said, “I am just requesting you to get yourself tested for Thalassemia carrier status.” Reena asked, “So, how will it help us?” Sachin explained, “Look, Reena, if both of us turn out to be carriers, then there are 25% chances in every pregnancy that our baby will be affected with thalassaemia major. I just don’t want that to happen. Reena looked thoughtful and then asked, “Suppose I too turn out to be a carrier, then what will we do?” Sachin replied with a heavy heart, “It would be better if we don’t marry each other.” “But I want to marry you”, Reena cried. “Me too,” said Sachin. “Is there any other way to prevent the birth of a thalassaemia child, if both parents are carriers?” asked Reena with tears in her eyes. Sachin, “Oh yes, I asked my physician. He told me that in such situations, the couple can go for prenatal diagnosis, where a sample of chorionic Villi or amniotic fluid is taken from the womb of the pregnant lady between 10-14 weeks and after 16 weeks, respectively and is subjected to molecular testing to rule out the disease. If the foetus is found to be affected, the couple are counselled, and they can take an informed decision to continue or terminate the pregnancy.” Reena replied, “Then why are you so worried? Let’s marry, and I will go for prenatal testing once I conceive to confirm whether the baby is affected or not.” Sachin said, “Please get yourself tested for carrier status. If you turn out to be negative for the carrier status, then there will be no issue, and we can marry without any fear of giving birth to a child with thalassaemia major.” Reena replied with curiosity, “Okay, I will get myself tested. But what test am I supposed to do?” Sachin replied, “First of all, we will do a complete blood count, and if your haemoglobin comes out to be on the lower side and the mean corpuscular volume (MCV) and the mean corpuscular haemoglobin are also on the lower side, Mentzer’s index is looked at. Mentzer’s index is calculated by dividing MCV by the RBC count, and if it is 13 or less than 13, it goes in favour of thalassaemia minor or carrier state. This diagnosis can be confirmed by doing haemoglobin electrophoresis or HPLC to look for Hb A2 levels. If Hb A2 is more than 4%, this confirms the diagnosis of thalassaemia minor or carrier status.”
Reena got herself tested the very next day. And to their much relief, her Complete Blood Counts were within normal limits, and her Hb A2 levels were also less than 3 %. Sachin was feeling relaxed, and they married happily the very next month.
The moral of the story is that if we really want to prevent Thalassemia in our country, all young women and men should get themselves tested for the carrier status for thalassaemia before marriage. And once they know about their current status, they should not shy away from disclosing it to the prospective partner, as Sachin did in the story.
Although a definitive cure for thalassemia is available in the form of bone marrow transplantation and gene therapy, these are still out of reach for most individuals requiring them. Bone marrow transplantation (BMT) is relatively more widely available, but challenges are finding a matched donor and the cost. Siblings have only a 25% chance of a full matched HLA. Chances of finding an unrelated matched donor are further less as the Blood Stem Cell Donor’s registry in India is still not that robust. Cost is another barrier. Coal India is providing support of Rs 10 Lakhs for BMT through its Thalassemia Bal Sewa Yojana, a CSR initiative to the eligible patient for BMT treatment, mainly for children with Thalassemia and also Aplastic anaemia.
Gene therapies offer potential cures for severe thalassemia, particularly transfusion-dependent beta thalassemia, by editing or adding functional genes to blood stem cells. A lentiviral vector is used by Betibeglogene autotemcel (Zynteglo, beti-cel) to insert a functional beta-globin gene into the patient’s hematopoietic stem cells. It was approved by the FDA in August 2022. Exagamglogene autotemcel (exa-cel, Casgevy) employs CRISPR/Cas9 to edit the BCL11A gene, boosting fetal haemoglobin (HbF) production as a workaround for faulty adult haemoglobin. It was approved by FDA in January 2024. These one-time treatments involve stem cell collection, lab modification, chemotherapy conditioning, and reinfusion, but access remains limited by cost, which is in crores and scarcity of specialised centres.
The need of the hour is to spread awareness among the general masses and medical professionals about thalassemia and its prevention, and to create such screening facilities at the peripheral hospitals and prenatal diagnosis facilities in all medical colleges.
The Thalassaemia Day Care Centre at the Department of Paediatrics, SMGS Hospital, GMC Jammu, has around 389 individuals with thalassaemia registered with it. The Centre is providing leuco-depleted and NAAT-tested blood ( considered to be the best) with the help of the Department of Immuno-haematology and Transfusion Medicine. J&K Thalassemia Welfare Society organises blood donation camps very frequently to meet the demand for blood for these individuals. Apart from this, all supplements and iron chelation drugs required to remove excessive iron from the body are being provided free of cost to individuals with Thalassemia major. The centre conducts regular follow-up clinics twice a month. The centre is running blood transfusion facilities, six days a week and also on alternate Sundays for individuals doing higher studies and jobs. All pregnant ladies visiting for an antenatal check-up are being screened for carrier status in the Department of Gynaecology & Obstetrics. Whenever a pregnant lady is detected to have a carrier state, her husband is also screened, and if both are found to be carriers, they are counselled for prenatal diagnosis. SMGS Hospital is also providing the facilities for prenatal diagnosis with the help of the Department of Radiodiagnosis.
(The author is Prof & HOD Coordinator in Chief Thalassemia Day Care Centre, Department of Pediatrics SMGS Hospital, GMC Jammu)
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