A 25-year-old man who suffered from thalassaemia, a blood disorder, since his childhood and survived on regular blood transfusions is able to live a normal life after undergoing a high-risk bone marrow transplant at a city hospital.
Nikhil was suffering from thalassaemia major (TM) since he was six months old as his parents were thalassaemia minor.
Thalassaemia is an inherited blood disorder that may lead to anaemia and patients generally have to get frequent blood transfusions to manage their condition.
Thalassaemia major occurs when a child inherits two mutated genes, one from each parent. Children born with thalassaemia major usually develop symptoms of severe anaemia within the first year of life as their body fails to produce normal, adult haemoglobin.
Nikhil used to manage his condition with regular blood transfusions, but after marriage he became concerned about his future. The possibility of the disorder being passed on to the next generation made him explore various options to cure his condition.
He came in contact with doctors at BLK Super Speciality Hospital here and was advised to go for transplantation of special stem cells found in the bone marrow, which has been the only curative option for patient with thalassaemia major.
Nikhil was diagnosed with thalassaemia intermedia transfusion dependant) when he was only six months old. Coming from a lower-middle class family with two siblings, his first blood transfusion was done at the age of 3.5 years.
“Survival was based on transfusions as he had to go for blood transfusion on frequent intervals. Moreover, fear of transferring the disease to the next generation loomed large,” Dharma Choudhary, senior consultant and director, Hemato-oncology and Bone Marrow Transplant at the hospital, said.
He was admitted to the hospital for allogenic haematopoietic stem cell transplantation as stem cells from his brother’s marrow matched perfectly. The transplant was done in May last year.
It was definitely a high risk, challenging case with very less success rate. But we took up the challenge as his brother as donor made a good match and finally we were able to perform the bone marrow transplant,” Choudhary said.
Post-transplant, Nikhil was on aggressive monitoring along with immune suppressant medications. He was advised for a fortnightly OPD visit for first three months, which was gradually reduced to once a month for next six months.
“As on date, he lives a normal transfusion-free life with no requirement of immune-suppressants,” the doctor said.
Thalassemia major shows a severe form of anaemia, necessitating lifelong blood transfusions and iron chelation. Bone marrow transplantation is the only cure but non-availability of a suitable HLA (human leukocyte antigen) matched donor, inherent high-risk of procedure and high cost restricts its practicality.
Several surveys and studies have showed India has the largest thalassemia burden in the world. About 10,000-15,000 babies with thalassemia major are born every year, Choudhary said.
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