Hemang Thakkar was six months old when his body suddenly turned absolutely pale one day. Alarmed, his mother, Usha, rushed him to the hospital. Tests revealed that Hemang suffers from thalassaemia major, a hereditary blood disorder where the body does not produce haemoglobin, which carries oxygen in the blood. The absence of haemoglobin leads to progressive anaemia.
"Doctors said my son would not live for long," said Usha, recalling the 40-year-old incident. The doctors' prediction was in a time when thalassaemia major patients, who require regular blood transfusions, did not live long because of poor medical facilities. Blood supply was scarce, quality of the blood available was questionable and blood transfusion was administered to children with primitive equipment such as needles meant for adults. Patients also need iron chellation therapy every day to remove excess iron from the body.
But Usha did not give up. The Thakkars used to live in Baroda then. For 12 years Hemang traveled to Mumbai every fortnight to get a blood transfusion. In 1984, they moved to Mumbai.
"Then, very few children survived beyond the age of five," said Dr Rashid Merchant recalling the days when he started working at the Wadia Children's Hospital in Parel in 1968. "Complications included reactions to blood transfusions, contracting jaundice or AIDS from infected blood, iron overload leading to heart failure, diabetes, liver damage, and other infections," said Dr MB Agarwal, haemato-oncologist who consults at Bombay Hospital and Lilavati Hospital.
Hemang is now 40 and has lived to see the transformation in services and facilities that have helped increase the life expectancy. "It's a very healthy situation now. A thalassaemic person does not have to worry so much about survival now. It's about managing the disorder," said Hemang.
For doctors, too, the change has been gradual. "My professor would tell us not to treat a thalassaemia patient as the child would not live for long anyway," said Dr MR Lokeshwar, who helped start a day care centre for thalassaemic children at Sion Hospital in 1988.
Blood transfusion facilities in the city improved with St George Hospital and the Red Cross Blood Bank starting day care centres for thalassaemic children. Now, there are 20 such day care centres.
"At a day care, a child is kept away from other patients to avoid infections. The child is monitored every time he comes for a transfusion. In most centers (except two) blood is provided free of cost," said Vinay Shetty, founder member of Think Foundation, that has helped establish seven daycare centres in the city.
In 1982, Desferal, an iron chellator drug that removes excess iron from the body, was introduced in India. "Before that, the drug was expensive. A cousin, who was a doctor in the US, used to send it," said Hemang. The drug has to be administered subcutaneously in the stomach or thigh for about eight hours every night.
"I know of children who said they preferred death to the process," said Dr Lokeshwar.
In 1984, a pharmaceutical company conducted its first human trial of another chellator, Kelfar. "We all participated in the trial," said Sangeeta Wadhwa, 34, a patient. Kelfar has to be taken orally but side effects include joint pains and gastric disturbances. Other oral chellators such as Asunr, to be taken first thing in the morning, are also available.
Facilities such as magnetic resonance imaging (MRI) help track iron depositions in the liver, heart, and other organs. "In addition, bone marrow and umbilical cord stem cell transplants are available, which are completely curative. Prenatal diagnosis is also available," said Dr Agarwal.
Dr Agarwal believes that thalassaemia is still difficult to live with. "Constant blood transfusions and iron chelation can be tough. Many patients end up with an HIV infection, jaundice, diabetes, a bad heart, liver and bones. Employment is not easy so the financial burden is huge. Those who undergo transplants have post-transplant problems including infertility. Marriages are rare," said Dr Agarwal.
What is Thalassaemia?