Sickle cell disease still deadly despite advances in medicine

A century after the drawing of an anaemic patient’s sickle-shaped red blood cells came out of Chicago in the USA —a sketch that officially placed this still pervasive genetic disorder into medical books — confusion, discrimination and lack of treatment continue to surround sickle cell disease (SCD), especially in Africa where more than 200,000 babies are born every year with the disease.

“Sickle cell is a true public health problem with medical, human and social dimensions,” Oumar Ibrahima Touré, Mali’s health minister until earlier this month, told IRIN.

Despite advances in treatment and research over the past century, SCD is still largely undiagnosed in the world’s most affected areas where the problem is too complex for any quick-fix solutions, researchers say.

And without treatment there is a 50 percent chance a sickle cell patient will die before the age of five, most commonly of a blood infection.

For its impact on lives and livelihoods, SCD has been deemed a “threat to the economic and social development of Africa” by the West Africa-based Federation of Associations Combating Sickle Cell Disorder in Africa (FALDA).

Still misunderstood

“People still don’t know about this sickness and there’s a lot of judgment, forcing sick people to hide,” said Dramane Banao, president of a national initiative to fight SCD and mother of a 19-year-old woman with SCD in the West African country of Burkina Faso.

Sickle cell disease is inherited and present at birth, but can show no symptoms for the first four months of life.

Characterised by irregular haemoglobin (iron-rich, oxygen-transporting protein in red blood cells), the disease causes red blood cells to morph into a sickle-shape (crescent) instead of a disc, which leads to clumping and blocked blood vessels.

This clumping can cause pain, infection and, in some cases, organ damage.

When sickle-shaped cells die, sickle cell anaemia, the most common form of SCD, takes hold.

Anti-cancer drugs and bone marrow transplants have extended the life expectancy of sickle cell patients into their 50s.

“Life expectancy has increased, which is a huge accomplishment in the fight against the disease,” Dapa Diallo, director-general of the Centre for Sickle Cell Disease in Mali, said. “Sickle cell cannot be cured, but with proper care [the health of a patient] can be improved.”

But life expectancy for a person with SCD in Africa, where a proper diagnosis is scarce, is still less than 20 years on average

“They didn’t know at all what the sickness was and treated me for malaria,” Abdoul Karim Ouedraogo, a 42-year-old sickle cell patient, said.

At first, he was thought to be cursed, and now walks with crutches when SCD, prior to his diagnosis, damaged his hip.

Up to one in four adults in sub-Saharan African countries like Nigeria carry the sickle cell trait, according to the World Health Organization (WHO).

Though carriers do not necessarily experience symptoms, testing is recommended for genetic counselling.

A man and woman, if both are carriers, have a 25 percent chance of having a child with SCD.

But the development of genetic testing, which has resulted in improved prenatal diagnosis in some parts of the world, is underutilised in the most heavily affected parts of West Africa, and has even led to discrimination and fear.

Finding a marriage partner can prove difficult for carriers of the trait: Carriers can be perceived as being sentenced to having a very sick child.

“We see ourselves as burdens on our families,” Moussa Soulale, diagnosed at 13 and now 25, said from Mali where she is a teacher who has learned to live with her illness.

Screening, education, prenatal diagnosis and treatment have proven effective in fighting the disease among smaller populations, such as in the eastern Mediterranean country of Cyprus.

But affected countries in Africa —where some populations have up to a 45 percent carrier rate, according to WHO - pose other challenges.

“The level of care and quality of management of the crisis are not well studied in Africa,” said Brahima Soumaoro, a Mali-based medical researcher.

There is an urgent need to put in place training for health workers “based on standards of proven efficacy,” he said, in the hope of containing SCD as it has been contained in the USA and Europe.