Imagine all your hard work, years of staying focused on a dream, studying constantly while managing an illness—all coming to nought because the people making the policies and taking the decisions are not clear about your illness. “I had decided in class XI that I wanted to be an Indian Foreign Service officer," says Sukhsohit Singh, 26. Singh cleared the civil services entrance exam, but was denied a position because he is thalassemic major.

Just like you: Sukhsohit Singh says that being thalassemic will not affect his productivity at work in any way. Photograph by: Priyanka Parashar/Mint

Says Jyoti Arora, 34, a freelance writer and editor: “I faced problems during the early years of school as treatment facilities were not great back then. And although I dropped out from regular school after class VII, I continued studying from home and cleared both class X and XII boards via correspondence. I even did my BA in English honours from Delhi University, and have a double MA in English and psychology from Annamalai University." Being thalassemic has not hindered Arora’s career. Since 2007, she says, she has been working as a consultant with two publishers. “Overexertion tires me, but that’s the only problem I face. And I need to go for a transfusion every 25 days. Otherwise I can work like any other book editor."

Not one to take injustice lying down, Singh launched a campaign against the order denying him a job. The Thalassemics Society of India joined his fight, and their combined efforts seem to be paying off. Although no letters have been issued yet, Singh says the Prime Minister’s office, or PMO, has intervened on his behalf.

“Sukhsohit’s struggle definitely helped bring the issue of thalassemia into the limelight in India. His rejection was sending out a negative message to all thalassemics and their parents out there. A positive solution will help give a lot of assurance and impetus to other thalassemics," says Shobha Tuli, president, Federation of Indian Thalassemics. “The fact is that people and the authorities need to be sensitized towards what this disease actually is. There is total lack of correct information about it at present, even though the numbers are huge," she adds.

Understanding thalassemia

Tarsem Jindal, head of department, paediatrics and neonatology, Jaipur Golden Hospital, New Delhi, says: “Thalassemia is the most common genetic blood disease in the world. It affects 7% of the world population, and in India, one in 25 people carries the gene for thalassemia." This means they are carriers of the disease, and even though the disease has not manifested in their case, the risk remains for their future generations—thalassemia is typically transferred from parent to child. “There is mutation in the genes producing haemoglobin, leading to defective blood production," explains Ashish Dixit, consultant, clinical haematology and blood and marrow transplant, Comprehensive Cancer Center, Manipal Hospital, Bangalore.

A full life: Book editor and writer Jyoti Arora is a consultant with two publishers.Photograph by: Priyanka Parashar/Mint

Beta-thalassemia major, however, is a severe condition requiring regular treatment. “Beta-thalassemic majors cannot produce blood to sustain life by themselves and are dependent on blood transfusion from (the time they are) six months old. They need blood transfusion every three weeks to sustain life normally. Other than this, there is no compromise in any other function of the body. However, with repeated blood transfusions, the body develops an iron overload so patients need iron-chelation (medicine to reduce iron from the body) treatment too," explains Dr Dixit. “If treatment is on course, thalassemics can lead a near-normal life," he says.

But there are two issues they do have to grapple with constantly. One, the problems associated with frequent blood transfusion—procurement problems, increased chances of infection, HIV. Two, costs. Since thalassemics do not get insurance, “it makes disease management an expensive affair and may cost approximately 2.5 lakh per year per person," says Dharma Choudhary, senior consultant and director, hemato-oncology and bone marrow transplant, BL Kapur Memorial Hospital, Delhi.

“Every year 10,000-12,000 new thalassemia majors are born in India," says Dr Choudhary. The World Health Organization has predicted that one million people all over the world will have the disease in the next 40 years.

What causes it?

“The cause is genetic. Two thalassemia minor parents give birth to a thalassemia major child. However, the chance of two such parents producing thalassemia major is only 25%," explains Dr Dixit.

Sometimes, though, there may be exceptions. Singh being one. Neither of his parents carries the gene; he is a case of “gene jumping" (someone in the family carried the gene that was transferred to him).

“The diagnosis is by detection of anaemia during early infancy," says Dr Chhabra. If a baby is anaemic, then doctors should suggest a thalassemia test—an ordinary blood test called a “full blood count" can help detect it. “If the result shows red blood cells that are smaller and paler than usual, this may be due to iron deficiency or due to the thalassemia trait," explains Dr Chhabra. It can also be diagnosed through prenatal testing (in the womb) by CVS (chorionic villus sampling) between 8-11 weeks of pregnancy. “When both partners are carriers for thalassemia genes (minor), then CVS examination is advised," says Dr Choudhary. In fact, in cases where both parents carry the gene, the test should be a must.

“There are also facilities available for doing IVF and selection of ovum with no thalassemia mutation, which can avoid the pain of knowing during pregnancy if termination is required, although these are more expensive," adds Dr Dixit.

Treatment options

The only permanent treatment for thalassemic majors is to opt for bone marrow transplant before the age of 5 (it costs 8-10 lakh). “Bone marrow transplant involves giving high-dose chemotherapy to kill old marrow cells and then replacing them with normal marrow from a donor. A donor is usually a sibling, but less commonly, unrelated donors or cord blood is used," says Dr Dixit. This standard procedure is available in select centres in India (including Manipal Hospital, Bangalore, and BL Kapur Memorial Hospital, Delhi). In fact, in the last two years there have been 22 bone marrow transplants at the BL Kapur Memorial Hospital, and 21 have been successful—so there are 21 ex-thalassemics who will now lead absolutely normal lives.

The procedure did not work in the case of the 22nd patient, who remains a thalassemic major.

“Show me one expert who can say that thalassemics are not up to doing any job. Rather, because we are used to struggle, we are as dedicated as or even more than others," signs off Singh.

*****

Beating the odds

Two thalassemic majors on living with the disease and the adjustments they’ve had to make

—Isha Adlakha, 27, lawyer, New Delhi

I was born on 16 November 1981 and was ill. There was no clear diagnosis for some time, but by doing advanced blood tests doctors figured out that I had thalassemia. I got my first blood transfusion on 10 September 1982—I have been getting them every three weeks since. Childhood was a bit tough—I had to give up cricket, which I was good at. I was even appointed umpire at my school, Manav Sthali. I opted for bachelor of information systems, a four-year course, after school and then did master’s in computer application. I was recruited by HCL Technologies from the campus itself and now I work at their Noida campus. Although I had offers from two more companies, I chose HCL as I had heard of thalassemics being rejected at the other two. I have not faced any problems in the four years I have worked here. The next step is to extend myself and take up even more challenging assignments. One problem I still need to tackle is that I am unable to take on assignments in the US because I am always denied medical insurance. I am sure I’ll find a way.

Hemant Bellani, 29, lead engineer, Noida

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