Namitha was diagnosed with delta-beta thalassemia intermedia at the age of 4. Since then, she has been on regular blood transfusions, iron chelation, a therapy to remove excess iron from the body with special drugs, and other treatments.
Delta beta (δβ) thalassemia is an unusual variant of thalassemia and patients affected with this type of Thalassemia show mild anemia. Several studies point out that only a few cases of δβ-thalassemia have been reported from India.
“Life has been a roller coaster with many ups and downs. Good times and bad times. I was sick pretty often in childhood but outgrew it. As an adult, I am grappling with endocrine complications due to thalassemia. On the bright side, I did everything that any child did like playing a lot of games, sports, physical activities like trekking, going on wildlife trips, and more. I acquired a good education with a Ph.D. from the National Institute of Advanced Studies, Bangalore. Life is basically a fine balance of clinical care and living normally,” Namitha told Financial Express.com.
Namitha is a member of the Thalassemia Patient Advocacy Group (TPAG) and Head of Communication and Outreach at Open Platform for Orphan Diseases (OPFORD, Bangalore). Living with Thalassemia has taught her to make healthy choices in order to optimally manage the disorder. “I try to put in a certain amount of physical activity daily and try to eat healthily. Once in a while, of course, I indulge in the usual junk food and sweets and that is okay. We are human after all overall, I stick to my healthy food options and engage in optimal physical exercise,” She said.
Although Namitha suffers from Thalassemia, she provides support to patients in the southern part of India with respect to resources, access to blood, and their rights. Despite her own condition, she also counsels other patients and helps them with diagnostics and access to blood banks.
What is Thalassemia?
Thalassemia is a rare genetic blood disorder in which the body makes an abnormal form of hemoglobin. Due to the blood disorder, excessive destruction of red blood cells takes place which leads to anemia. Globally, Thalassemia affects approximately 4.4 out of every 10,000 live births. Meanwhile, around 5 percent of the worldwide population has a variation in the alpha or beta part of the hemoglobin molecule. But not all of these cases are symptomatic and some of them are silent carriers. It is noteworthy that only 1.7 percent of the global population show symptoms due to gene mutations, which is known as a thalassemia trait.
Health experts told Financial Express.com that alpha- and beta-thalassemia are more prevalent in tropical and subtropical regions of the world, especially in areas where malaria is or has been endemic. However, the reason for this association between thalassemia and malaria is unclear.
Thalassemia in India
India has the largest number of children with Thalassemia Major across the world. Every year, about 1 to 1.5 lakh and about 10,000-15,000 children having Thalassemia Major are born, according to a report 2016 National Health Mission report on Haemoglobinopathies. According to a report in Pediatric Hematology-Oncology Journal, India has a huge burden with an estimated 100,000 patients with a β thalassemia syndrome and around 150,000 patients with sickle cell disease.
“With India’s varied demographic comes a heavy disease burden, including some genetic disorders. Thalassemia, a genetic blood disorder is one rare disease still prevalent here. It is an inherited disease characterized by faulty hemoglobin synthesis and RBC production in the body, meaning that a thalassemic patient would require long-term blood transfusions to sustain life. Thalassemia can be treated with Bone Marrow Transplant (BMT) presently renamed Hematopoietic Stem Cell Transplantation (HSCT),” Dr. Tulika Chandra, Prof., and HOD, Department of Transfusion Medicine, King George Medical University, Lucknow told Financial Express.com.
Diagnosis and Treatment of Thalassemia in India
Dr. Chandra explained that the doctors diagnose thalassemia using blood tests. “The disorders are treated with blood transfusions, medicines, and other procedures. Treatments for thalassemia depend on the type and severity of the disorder. People who are carriers or who have an alpha or beta thalassemia trait have mild or no symptoms. They’ll likely need little or no treatment. Doctors use three standard treatments for moderate and severe forms of thalassemia. These treatments include blood transfusions, iron chelation therapy, and folic acid supplements,” she said.
Dr. Chandra also said that several other treatments have been developed or are being tested, but they are used much less often. “Treatment of thalassemia has advanced as efforts are made to transfuse the safest possible blood to them which is leucodepleted and phenotype which removes the chances of any errors. Stem cell transplantation has also shown good results,” she added.
‘Proper treatment of Thalassemia in India still a challenge for many’
Despite the high prevalence of genetic blood disorders in the country, there is still a lack of awareness about Thalassemia. According to doctors, many patients are not even aware of their status as Thalassemia carriers and it gets passed on to their offspring. According to the report published in Pediatric Hematology-Oncology Journal, very few cases are optimally managed, and allogeneic stem cell transplant is unaffordable for the majority of families.
“Without financial support from government programs and other public initiatives, the current treatment protocols are not sustainable by most affected patient families. Leukofiltered PRBC is the preferred blood product to reduce transfusion-associated complications. Chelation of excess iron requires strict sustained compliance of the chelation therapy,” Rema G, Assistant Professor, Clinical Haematology & Stem Cell Transplantation, Amrita Hospital, Kochi told Financial Express.com.
She also informed that the cost of the chelating agents and the cost of maintaining steady levels of chelators by adequate and appropriate route of administration is unaffordable to most patient families. “Stem cell transplants have been possible to many patients only through financial support via Government and NGO associations as well as through crowdfunding facilitated through social media,” she added.
Thalassemia in the time of the COVID-19 Pandemic
According to doctors and health experts, the ongoing COVID-19 pandemic is a “doubly” precarious time for thalassemia patients. “Not only are thalassemic at a higher risk for COVID-19 but arranging blood transfusion was extremely difficult for some. There have been multiple accounts about patients and caregivers facing difficulties arranging for donors, availing of treatment, or organizing blood donation camps. With many scared of donating blood during the pandemic, there was a supply shortage which made patients fear for their lives,” Dr. Tulika Chandra said.
She also said that the supply disruptions only aggravated the challenges of getting steady availability of blood transfusion services. “There’s a stringent need for authorities to roll out nationalised awareness campaigns and ensure patients get their basic needs covered, including access to safe and quality blood transfusions,” she added.
Thalassemia patients, especially young adults, have a chronic condition that may be associated with several co-morbidities linked to the underlying disease as well as complications of chronic transfusions, including heart failure, pulmonary hypertension, and diabetes. “Thus, it seems possible that there could be an increased risk of more severe COVID-19 disease in some patients. Not proven yet but seems to be a high risk during covid,” she said.
Dr. Chandra also informed that at present, there is no evidence that the SARS-CoV-2 virus may be transmitted through donated blood. However, it is advisable to maintain the individual’s chronic transfusion regimen. Clinics and infusion centers should offer patients the safest possible environment for receiving transfusions, in areas free of COVID-19 patients or those being screened for respiratory symptoms and providing health care personnel protective equipment.
“Hematologists and other thalassemia care providers should continue to follow local and national developments related to possible blood shortages related to COVID-19. Clinical sites and blood banks should develop contingency plans for adjusting transfusion regimens and obtaining appropriate donor units for individuals with alloimmunization in the event a significant shortage develops. They need proper care with hygiene and regular availability of safe blood,” she said.
Living with Thalassemia
On an everyday basis, Namitha is trying to make the most out of her life. While following her medical regime strictly, she also encourages other thalassemia patients around her. While talking to Financial Express.com, she said that when she was diagnosed, her paternal grandparents became very sad.
“I think my diagnosis profoundly affected and upset my paternal grandparents. My grandfather was a chemistry professor and associated with the Indian Institute of Science in Bangalore. As long as he was alive, he never gave up on trying to find a gene therapy cure for me. He wrote to doctors like Martin Cline and tried to understand when newer therapies would be available,” she said.
According to the doctors, to manage the disorder, blood transfusions and chelation therapy are generally opted by the patients. “One requires medical attention on a regular basis from a hematologist. If a doctor has prescribed either blood transfusions or chelation therapy, the most important thing a person with thalassemia can do is stick to their transfusion and chelation schedules to prevent severe anemia and possible organ damage from iron overload, respectively. They search for compatible donors, but hospitals become their second home due to regular transfusions,” Dr. Chandra told Financial Express.com.
‘Following scheduled treatment essential part of managing Thalassemia’
Dr. Rema told Financial Express.com that the education of the primary caregiver of the thalassemic patient assures compliance to periodic transfusions and chelation therapy.
“Adequately transfused and chelated patient is expected to have normal growth and achieves sexual maturity. However inadequate transfusion and chelation can lead to endocrine complications affecting the growth of the patient. The Iron overload in the heart and pulmonary circulation can lead to cardiac failure and death most commonly seen in the late adolescent or early adult patient who has been poorly chelated,” Dr. Rema said.
Dr. Rema also informed that a poorly transfused patient has a high risk of death before five years of life. “Adequately transfused but poorly chelated patient develops cardiac failure and succumbs by late adolescence or early adulthood. With the best supportive care, the longevity has been found to be around 50 years worldwide. With newer modalities of treatment being identified, the longevity of the thalassemic patient is expected to improve,” she said.
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