Today is World Thalassaemia Day, when worldwide the spotlight falls on a disorder that adversely affects the lives of thousands. The good news is that the medical management of thalassaemia is improving all the time. In addition, organisations like the South African Thalassaemia Association (SATA) are helping to empower patients and their families by providing support and information about the condition.
Thalassaemia is an inherited blood disorder resulting from a genetic defect. It causes anaemia (a condition characterised by an insufficiency of red blood cells). According to Dr Natasha Sewpersad, a clinical haematologist based at Inkosi Albert Luthuli Central Hospital in Durban, “Thalassaemia affects mainly people of Mediterranean as well as south and south-east Asian descent. It is especially common where there is a high rate of intermarriage within a community.”
There are two types, thalassaemia minor and thalassaemia major, the latter being much more severe. Thalassaemia minor is generally asymptomatic, although some patients may suffer from mild anaemia.
“Patients with thalassaemia major usually develop severe life-threatening anaemia aged six months to one year. It is a chronic lifelong condition requiring blood transfusions every three to four weeks for life,”says Dr Yasmin Goga, a paediatric haematology consultant also based at Inkosi Albert Luthuli Central Hospital.
Testing for thalassaemia major
The initial suspicion that a patient has a haemoglobin disorder is seen in a test called a ‘full blood count’ (FBC). Says Sewpersad: “Iron deficiency anaemia appearsvery similar, so it’s important to rule this out before diagnosing thalassaemia. We do this by measuring iron levels in the body and only diagnose thalassaemia once any iron deficiency has been treated.”
In the presence of an abnormal FBC and normal iron status, more sophisticated tests are carried out to confirm the diagnosis.
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 nonetheless 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 shouldbe carried out,” she says.
The most important complication of thalassaemia major is iron overload. The human 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.”
Significant advances have been made in the treatment of iron overload. Previously iron chelation required a patient to be attached to a pump for 8-10 hours, five to seven nights a week, with a small needle inserted into the skin. But theadvent of oral iron chelators has revolutionised the management of iron overload states. “The good news is that 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,” notes Sewpersad.
“Bone marrow transplantation can offer patients with thalassaemia major a cure. However this procedure is only carried out in specialised centres and is also associated with some clinical risk,” saysGoga.
Genetic testing for thalassaemia, which allows for conclusive diagnosis, is not routine in South Africa. In the prenatal setting, these tests are performed on the parents. “Genetic testing may be of significance in the future when we wish to correlate response to chelation with specific genetic patterns, when gene therapy is more refined and the disorder can be rectified at a genetic level,” concludes Sewpersad.
Support and advice for thalassaemic patients and their families
The South African Thalassaemia Association (SATA), which believes that ‘greater awareness creates superior care’, is an excellent source of information on the condition. The society’s mission is to improve the quality of life of all living with thalassaemia by advocating better treatment, compliance, emotional and physical support, social integration and non-discrimination. It is committed to helping thalassaemia patients cope with the demands of their treatment while still experiencing the joys of growing up, choosing careers and even having families of their own. According to chairperson, Sunil Soni, “There is a bright light at the end of the tunnel and one of our purposes is to make the parents of thalassaemic children aware of this.”
Soni and other members of the society are all either themselves thalassaemic or the parents of a thalassaemic child (one of Soni’s family member’s has thalassaemia major). This means that they understand and can empathise with all who come to them for advice and assistance. “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. 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 actually lived with the condition or someone who has it. Our having experienced the same fears 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 what stage every parent is at in the process. We gently guide them in this regard, 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,” continues Soni.
Soni feels that the association’s proudest achievement to date is 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% coverage for state sector patients in KwaZulu-Natal and are working towards that goal in Gauteng too,” he concludes.
For further information about SATA, please visit the website.
(Press release, May 2012)