It was only when Prakash was seven months old that alarm bells started ringing. “He cried continuously and became increasingly pale,” recalled his mother Sushila Jaga. She took him to a doctor, who found that his spleen was distended and referred him to a specialist.
Prakash was admitted to hospital in Durban and referred for more tests. The diagnosis shocked the Jaga family – Prakash had thalassaemia major, a genetic blood disorder, and could not produce enough red blood cells.
“Both my husband and I were tested for the gene and found that we were both carriers,” said Sushila. “Our daughters were also tested and while two of them are carriers, one is not.”
Prakash had to receive blood transfusions on a monthly basis. But then iron began building up in his liver, heart and endocrine system, so by the time he was three he was on medication that removed the excess iron, a process known as “chelating”. Chelating also entails being connected to a pump every day, which meant Prakash couldn’t always participate in sport at school.
“He would also get tired and weak between blood transfusions, becoming short of breath and feeling faint,” Sushila said.
Thalassaemia is inherited, affecting mainly people of Mediterranean as well as south and south-east Asian descent, and is especially common where there is a high rate of intermarriage within a community, according to Dr Natasha Sewpersad, a clinical haematologist based at Inkosi Albert Luthuli Central Hospital in Durban.
The world’s highest rate of thalassaemia is to be found in the Greek island of Cyprus, where one in seven Cypriots – 15 percent of the population – is a carrier. In South Africa, it is seen mainly in the Indian and Greek communities.
People who carry a single abnormal gene are said to have thalassaemia minor, which is generally asymptomatic although some patients may suffer from mild anaemia.
Patients who inherit two abnormal genes have thalassaemia major, and show signs of severe, life-threatening anaemia at between six months to a year old, said Dr Yasmin Goga, a paediatric haematology consultant, also based at Inkosi Albert Luthuli Hospital.
“It is a chronic life-long condition requiring frequent blood transfusions – every three to four weeks – for life.
“Children who do not receive treatment for thalassaemia major will die within their first decade.”
Thalassaemia is normally picked up in a full blood count test, which will show a low haemoglobin level and red cells that are pale and small. “Iron deficiency anaemia shows a very similar picture, so it’s important to rule this out before diagnosing thalassaemia,” Sewpersad said.
“We can only diagnose thalassaemia once any iron deficiency has been treated.”
The most important and serious complication of thalassaemia major is iron overload. The human body has no mechanism of excreting excess iron, and constant blood transfusions cause excess iron from donor blood to accumulate gradually in vital organs at increasingly toxic levels.
“The organs affected are the liver, heart and all endocrine organs,” said Sewpersad. “Patients are consequently at risk for heart and liver failure and numerous hormonal disorders. Drugs that remove, or ‘chelate’, iron are therefore essential.”
A multidisciplinary medical team needs to be involved in the care of a patient with thalassaemia major, including a haematologist, endocrinologist, cardiologist, psychologist and dedicated nursing staff, as thalassaemia can have cardiac and endocrine or hormonal complications. Patients also require counselling and psychological support.
The good news is that the management of thalassaemia is continuously improving. Significant advances have been made in the treatment of iron overload. “Previously iron chelation required being attached to a pump for eight to 10 hours, five nights a week, with a small needle inserted into the skin,” explained Sewpersad. “But the advent of oral iron chelators, in the form of a tablet that is taken dissolved in a glass of water, has revolutionised the management of iron overload states.”
Also, a non-invasive imaging technique known as T2* MRI allows iron to be detected easily and addressed before it reaches potentially lethal levels.
“This is a remarkable technology that allows us to assess the iron burden in cardiac tissue,” she said. “A similar technology, the R2, is available for liver tissue. This test helps us identify severe iron burden and alerts us to the need for intensifying iron chelation therapy.”
Bone marrow transplantation, meanwhile, can offer patients with thalassaemia major a cure, though this procedure is only carried out in specialised centres and is associated with some risk.
So with early diagnosis, proper iron chelation and proper care, people with thalassaemia can live full lives, with careers and families of their own.
Further breakthroughs in the understanding of the genetics of the disorder, meanwhile, may one day revolutionise the approach to thalassaemia major.
If thalassaemia minor is diagnosed in both parents, the chance that the baby will have thalassaemia major is 25 percent. Genetic testing on the baby is only conclusive after six to 12 months, as during the first six months of life high levels of foetal haemoglobin protect the baby. Sewpersad said in the future gene therapy could become more refined, and could enable the disorder to be rectified at a genetic level.
In Cyprus, the Cypriot Orthodox Church supports premarital genetic testing followed by genetic counselling if both partners are carriers. For those who conceive, prenatal testing is available. This has proved highly successful in decreasing the rate of thalassaemia on the island.
Sewpersad feels that South Africa’s incidence of thalassaemia major is not high enough to recommend routine testing of all newborns. However, a basic haemoglobin assessment should be undertaken at all antenatal visits, she said. “GPs, nurses and obstetricians should be taught to suspect thalassaemia minor in Asian women with low haemoglobin levels and appropriate tests should be carried out for early detection,” she said.
About two years ago Prakash, now 24 years old and working as a documentation co-ordinator, began taking oral medication that chelates the blood he receives via transfusion. “This gave him much more freedom,” Sushila said.
“It’s been a tough battle all these years, but we feel blessed to have had the support of so many people in helping us manage his condition, and that he is now able to lead a normal life.” - The Star
* For more information, visit the South African Thalassaemia Association on www.thal.org.za