Survival is in her blood


Copy of ND Blood 4 [2]

INLSA

Yenusha Ramluggan is living healthily, despite having the genetic blood disorder thalassaemia. Picture: Zanele Zulu

When Yenusha Ramluggan was diagnosed with thalassaemia at the age of two, her parents were shocked. They had never heard of this little-known blood disorder and had sought medical advice when their little girl displayed some of the classic symptoms of thalassaemia major: tiredness, enlarged spleen and lack of appetite.

Yenusha, 42, was diagnosed relatively late. The condition usually presents between six months and one year and treatment should start immediately.

Those who are not treated will die within their first decade because the condition causes severe, life-threatening anaemia. But in the 1970s, awareness and treatments were not as advanced as they are today.

Thalassaemia is an inherited blood disorder, resulting from a genetic defect.

Genetic testing has subsequently shown that some of Yenusha’s family members are carriers of that gene.

After her diagnosis, Yenusha, like all thalassaemia sufferers, had to start regular blood transfusions – a treatment programme she will have to follow for the rest of her life.

Every three weeks, she goes to hospital for a transfusion, which takes several hours. In the ensuing weeks, she feels well and energetic. As haemoglobin (red blood cell) levels start to diminish, fatigue sets in and she is ready for her next one.

Living with a chronic, lifelong disorder has not stopped her achieving, however.

After school, she enrolled at UKZN and completed a B Com honours degree and Higher Diploma in Education.

Today she is a full-time lecturer at a top tertiary institution and she made history by becoming the first thalassaemia patient in South Africa to have a baby.

“In those days, patients with thalassaemia were advised not to have children, but I wanted to have a baby, so my husband and I researched the subject and consulted local and overseas doctors for advice,” she says.

“My pregnancy progressed without any problems and I have a healthy, eight-year-old son, Yudhav. He will be genetically tested in the future.”

Dr Natasha Sewpersad, a clinical haematologist based at Inkosi Albert Luthuli Central Hospital in Durban, says: “Thalassaemia affects mainly people of Mediterranean as well as south and south-east Asian descent.”

In South Africa, it is seen mainly in the Indian and Greek communities.

Sewpersad feels that South Africa’s incidence of thalassaemia major is not high enough to recommend routine testing of all newborns. At-risk groups must, however, be identified and pregnant women should undergo a basic haemoglobin assessment at all antenatal visits.

“GPs, nurses and obstetricians must be taught to suspect thalassaemia minor in Asian women with low haemoglobin levels and appropriate tests should be carried out,” she says.

While blood transfusions are a lifeline for thalassaemia patients, the condition does have complications, the most important of which is iron overload. The body has no natural mechanism to remove excess iron, and constant blood transfusions cause excess iron from donor blood to accumulate gradually in the liver, heart and all endocrine organs, at increasingly toxic levels.

“Patients are consequently at risk for heart and liver failure and numerous hormonal disorders,” says Sewpersad. “Drugs that remove – the technical term is ‘chelate’ – iron are therefore essential.”

In Yenusha’s case, and in the case of many other patients decades ago, there was no chelation and many are suffering the effects of its toxicity to the liver, heart and endocrine organs. Yenusha fortunately has few ill effects.

Significant advances have been made in the treatment of iron overload. Previously iron chelation required a patient to be attached to a pump for eight to 10 hours, five to seven nights a week, with a small needle inserted into the skin. But the advent of oral iron chelators has revolutionised the management of iron overload.

Revolutionise

“The management of thalassaemia major is constantly improving. Early diagnosis, proper iron chelation and supportive care now ensure that patients with thalassaemia major can live full lives with careers and families of their own.

“Research in this field is ongoing and further breakthroughs in the understanding of the genetics of the disorder may one day revolutionise our approach,” Sewpersad says.

Genetic testing for thalassaemia is not routine in South Africa, but it may be significant in the future.

Bone marrow transplantation is the only curative treatment but only if there is a sibling match, says Dr Yasmin Goga, a paediatric haematology consultant at Inkosi Albert Luthuli Central Hospital. It is only carried out in specialised centres and is not without risk, she says.

Gene therapy is on the horizon and offers promise, but that is in the research stage.

A multidisciplinary medical team needs to be involved, comprising a haematologist, endocrinologist, cardiologist, psychologist and dedicated nursing staff, because thalassaemia can have cardiac and endocrine/hormonal complications. Patients also require counselling and psychological support.

The SA Thalassaemia Association (Sata) is an excellent source of information and its mission is to improve the quality of life of all patients. It wants to help young patients cope with the demands of treatment and still live normal lives, with careers and children of their own.

Sunil Soni, national chairman of Sata, who has a family member with thalassaemia major, says members of the society are all either thalassaemic or have children with the condition.

“In addition to offering information and guidance, our sharing common ground means that we can show them the compassion they need in this time of distress,” he says.

“It’s devastating to discover that your child has a potentially life-threatening disorder and there’s nothing worse than the fear that you might lose your child. Though doctors do a sterling job in respect of diagnosis and treatment, they haven’t lived with the condition or with someone who has it. We have experienced the same fears and this adds an extra dimension to the help and support we can offer.”

One of the biggest challenges Soni and his associates face is overcoming parental denial.

“Getting parents to accept that their child has thalassaemia can take time and we make sure we’re sensitive to that. We gently guide them, with a view to ensuring that acceptance comes quickly, as prolonged denial can mean that the child does not receive timely treatment.”

The association also liaises with doctors in the public health-care system on behalf of patients and their parents.

“It’s often challenging for state patients to communicate with doctors. As an association, we can facilitate things on their behalf.”

Soni feels that the association’s proudest achievement has been helping to expedite the registration and launch of the oral iron chelator, deferasirox.

“In collaboration with Novartis and some committed doctors, we were instrumental in having it approved for named patients. We have achieved 100 percent coverage for state sector patients in KwaZulu-Natal and are working towards that goal in Gauteng too,” he says.

See www.thal.org.za


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