NH Health City Bengaluru : Thalassemia is a genetic disorder and prevention is the key to avoid bringing a child with Thalassemia major into this world. It can be prevented with a simple blood test before planning a child.
30 year old Mumtaj Surya is a patient with Thalassemia major. She was diagnosed with Thalassemia at a tender age of just 6 months. This is a condition where right from the age of 6 months to a year, the patient is required to have monthly blood transfusions for life. As a result of regular blood transfusions one tends to have an iron overload, which basically affects the liver, heart and the endocrine organs. If we look at the adolescents to adult population, surviving beyond the age of 20 to 25 itself is a difficult proposition due to the iron overload problems. That is the usual story of Thalassemia patients who do not undergo a bone marrow transplant.
However, Mumtaj has been very regularly taking blood transfusions and maintaining the iron within a considerable range. She has done this through her own homeopathy based medication to reduce the iron. With that she has been able to lead a normal life; she has a job, she’s working and decides to get married and plan a child. “This is a rare occurrence in the history of Thalassemia” feels Dr. Sharat Damodar, Clinical Director Mazumdar Shaw Medical Center and Senior Consultant Hematologist & Head of Bone Marrow Transplant Unit at Narayana Health City. “Lot of them tend to have endocrine problems. Because of infertility issues a lot of them don’t get married also”, he said. However, in the case of Mumtaj, she was able to maintain the endocrine function and had her regular periods; therefore went on to get married to one of her distant relative after confirming that he doesn’t have Thalassemia. She delivered a baby boy less than a year back at Narayana Health City under the supervision of Dr. Sharat Damodar and Dr. Kiranmayi, Consultant Obstetrics & Gynecology, Narayana Health City.
“Abortion or pre-term birth was one of the major risks that would have affected the pregnancy. Further, as she is anaemic there was a possibility of pre-eclamsia, which is an increase in the blood pressure during pregnancy. The repeated blood transfusions that the patient underwent had a chance of her facing intrauterine growth restriction, which may slow down the growth of the baby. However, she was normal and didn’t suffer from any of it” confirmed Dr. Kiranmayi.
“Mumtaj was well-informed and prepared. She had tremendous support from her family and that made the process very easy”, she added.
This is a rare instance in Thalassemia patients who have not had a BMT and continued with only regular blood transfusion. This being a rare occurrence, Mumtaj wanted to spread the word to other such Thalassemia patients giving them hope to survive and lead a normal life.
“Initially, I faced a lot of pessimism from everyone. My own family doctor was very worried and apprehensive about me continuing with the pregnancy. That’s when I met Dr. Sharat Damodar. His and Dr. Kiranmayi’s team instilled confidence in me and rendered unstinted support throughout my pregnancy. They were always accessible. As I reside 150 kilometers away from Narayana Health, my queries were at times over the phone, they were always willing to address my concerns. I’m grateful as I was never put through any extra strain or numerous scans and I delivered with ease. My son is healthy and nine months old now. I feel blessed to be enjoying motherhood like any other normal woman”, said Mumtaj while sharing her experience.
“On the occasion of World Thalassemia Day, I take the opportunity to also give other women who suffer from Thalassemia the confidence that with regular medication, will power and support from doctors, they can also become a mother”, she said.
Because of Thalassemia the patient has low hemoglobin, which has to be supplemented with blood transfusion. Whenever there is low hemoglobin it can potentially compromise the oxygen supply to the child. “We go on to a hyper-transfusion in such cases, which is to have transfusion more frequently or more units to keep the hemoglobin above 10, which is what we have done to ensure the child’s growth is not compromised”, informed Dr. Sharat Damodar. “Secondly, sometimes because of the very high iron status if you either have liver dysfunction or a cardiac dysfunction, then that can potentially cause an abortion and that’s a little worry that we had. We kept constantly monitoring the iron store and ensured the heart status is fine because it changes the blood volume during pregnancy. These are some of the primary issues that we considered during her course of treatment at Narayana Health City”, he said. The primary aspect was to take her through the pregnancy maintaining her hemoglobin and keeping a follow-up on general well-being, her liver function test and cardiac status.
The good news is that since her husband is normal and doesn’t suffer from Thalassemia, the baby could be Thalassemia minor since it is a genetic disease and doesn’t have the problem that the mother has. The child didn’t need any additional tests as he was Thalassemia minor after confirming that the father of the child was healthy.
According to reliable sources at Narayana Health City, she certainly is the first and only Thalassemia patient in South India to give birth at the age of 30 and probably the first in India too.
She is also the oldest patient of Thalassemia coming for blood transfusion in Bengaluru. Mumtaj is on regular follow-up at Narayana Health City to check her cardiac status and for regular blood transfusion.
Looking at the adolescent and adult female Thalassemia patients, most of them have an issue with ovulation and their periods are irregular or they don’t get their period because of the iron deposition in the endocrine organ, which is the most common problem. “It is important to highlight that if you take regular transfusion and good chelation, we should be able to maintain the endocrine function. This can also happen to the male patients wherein due to endocrine dysfunction the testosterone levels will be low and secondary sexual character development doesn’t happen. Due to this lot of people don’t get married. This is common among the adolescent and adult Thalassemia patients and many times also due to psychological stress”, informed Dr. Sharat Damodar.
1 in 10,000 newborns are diagnosed with Thalassemia and a lot of them don’t reach tertiary care centres such as NH because some of them don’t get adequate blood transfusion; child would reside in villages and rural areas, and many go to smaller places and get routine transfusion and lot of them don’t get the iron overload monitored and chelation done.
Prevention & Cure:
Bone Marrow Transplant is the only curative option for Thalassemia. Looking at the Indian registry data, around 20 to 25% of all bone marrow transplants done in India are for Thalassemia patients. It makes more sense to go preventive and make sure you identify people who are Thalassemia minor before getting married and then either prevent or go for genetic testing during pregnancy and prevent the child from having Thalassemia major. This drive is more important in preventing these numbers from increasing. Educating and sensitizing people is also very important to get a simple blood test done to prevent bearing a child with Thalassemia major. Adequate counseling and awareness can prevent Thalassemia.