A researcher at UCT is bringing attention to a disease discovered 100 years ago with still only one treatment for it.
The gene mutation affects about 300 000 babies born in sub-Saharan Africa every year and 90% of these babies die before the age of five.
The solution might lie with Professor Ambroise Wonkam, who is a senior specialist in the Division of Human Genetics at UCT, and the principal investigator for the Sickle Africa Data Co-ordinating Centre, which recently secured R49 million for its research.
It is believed that the mutation occurred in four independent sites in Africa and an additional site in India about 3 000 years ago, as a result of malaria prevalence.
It is prevalent in people of African descent, including African Americans, people around the Mediterranean Sea, including Italians, people from the Middle East and the Indian sub-continent.
The disease occurs when the doughnut-shaped blood cells are replaced by sickle-shaped blood cells that block and affect the normal oxygen-carrying function of the cells.
While ordinary blood cells transport haemoglobin from the lungs to tissue, the haemoglobin in sickle cells develops into stiff rods that cause the shape that hampers movement. As a result, the disease can cause blockages in the blood vessels cutting off oxygen supply to critical parts of the body like the organs, brain and eyes; anaemia; episodes of severe pain caused by the sickle-shaped red blood cells blocking blood flow in the body; frequent infections, delayed growth and vision problems as the sickle cells block blood vessels to the eyes.
Wonkam said the disease was diagnosed 100 years ago, and his research is dedicated to the lack of attention paid to the disease in this time.
He said the mutation that causes sickle cell disease is the same as those that confer a resistance to malaria.
“Because South Africa is out of the malaria endemic zone, sickle cell disease is rare among South Africans. It can be found in a small percentage of population from Limpopo and Mpumalanga, and in South Africans from Indian, Greek and Portuguese and of mixed ancestry.
But its burden is increasing in our paediatric and adult haematologic clinics (200-300% over the past decade) due to migrations.”
Wonkam said there is virtually no cure.
“Only one medication, hydroxyurea, is available to improve the symptoms but (with) some real and perceived side effects, but it is not widely used and available in Africa.
“The only possible cure is bone marrow transplantation and this is seldom available to most patients.”