2023-06-18 17:00:45
Priscilla Reynolds (31) is a nurse and sickle cell patient. The serious blood disorder in the Netherlands mainly occurs in people of African origin and therefore seems less unknown. World Sickle Cell Day (June 19) should change that and also generate more research funding.
Jop van Kempen18 June 2023, 17:00
Nature discriminates, at least in the case of sickle cell disease. The blood disorder occurs in millions of people of African descent, while not one sickle cell patient has a Western European descent.
Here’s the thing: the disease is the result of a genetic variation that protects against malaria, an infectious disease that has historically been less common in Western Europe than in Africa. A mutation in a gene for hemoglobin, the substance in red blood cells that carries oxygen, makes it more difficult for the malaria parasite to penetrate into those cells. From an evolutionary point of view, this genetic variation offers a better chance of survival against malaria. But when you get that gene from both your parents, you have sickle cell disease.
“And that’s a really bad condition,” says Reynolds. The Amsterdam woman has had the disease all her life. Only in her twenties could she accept, with the help of a psychologist, that she was ‘different’ from healthy people.
Severe attacks of pain
For example, Reynolds is often tired due to chronic anemia, which limits her social and working life. Her organs and bones are damaged when the sickle-shaped red blood cells form a ‘wall’ in a blood vessel and the flow of oxygen stops. That also causes severe pain attacks. A few times a year, Reynolds has to go to the hospital for a week for pain relief. Stress and cold increase the chance of such an attack.
Reynolds had the most crises (seizures) during her nursing training; she worked her way up to higher vocational education via secondary vocational education. “I have an attack like that a few times a year, and it’s really terrible. Then I have to go to the emergency room for an IV with a strong painkiller such as morphine. I have had more than fifty crises in my life, but I am always amazed how much it hurts.”
Reynolds works thirty hours a week at the vascular surgery department in Amsterdam UMC. Part of that time she is a desk clerk; that is lighter than patient care at the bedside.
At the hospital, Reynolds is also a patient of hematologist Bart Biemond, who specializes in sickle cell disease. “That is a rare disease in the Netherlands,” says Biemond. “There are about two thousand patients, about a quarter of whom live in Amsterdam. Most Dutch sickle cell patients live in the Randstad.”
Biemond agrees that sickle cell disease discriminates on the basis of origin, but that is not to say that there are no white patients. People with roots in Greece, Turkey, southern Italy or Albania also have the disease, says Biemond, because the genetic variation also offered an evolutionary advantage there. This also applies to countries such as Saudi Arabia, Egypt, Syria and India. “But most patients live in Africa. One in seven dark-skinned people carry the sickle cell gene.”
Hematologist Bart Biemond: ‘Here too there is less attention for a disease that the majority of the population cannot get.’Image Dingena Mol
Lecture
Sickle cell disease is comparable to cystic fibrosis in the Netherlands; they are both genetic disorders that manifest themselves in childhood and lead to a lower life expectancy of, say, ten to fifteen years. The number of patients is also about the same: between 1500 and 2000.
“But cystic fibrosis is much more familiar,” says Reynolds. “I gave a lecture about sickle cell disease at the Over-Y College in Amsterdam-Noord, because no one in my class actually knew about it. Hardly anyone knew that I was a patient.”
Worldwide there are about 70,000 cystic fibrosis patients and about 9 million sickle cell disease patients. Nevertheless, more research money is being spent on cystic fibrosis. The reason is obvious: most sickle cell patients live in relatively poor countries, which means that interest and the pharmaceutical revenue model are declining.
Biemond: “In the United States, it turned out that research funding from public and private funds for cystic fibrosis was seven times higher than research funding for sickle cell disease. There are no good figures in the Netherlands, but here too there is less attention for a disease that the majority of the population cannot contract. And without making a distinction between patients: that is remarkable.”
Medium from the sixties
The Sickle Cell Fund, founded in 2017, is trying to get more attention for the disease in the Netherlands and to stimulate research through sponsors. On World Sickle Cell Day (Monday 19 June), the Sickle Cell Fund organized a meeting in Amsterdam’s DeLaMar, where patients, their families and doctors reflect on the disease. More attention should ultimately also lead to better treatment (see box). “The only tool we have to prevent crises comes from the 1960s and has been used for sickle cell disease since 1995,” says Biemond. “Nothing new has come on the market in Europe since then.”
One way to encourage the pharmaceutical industry to develop drugs for rare diseases in Western countries is in the form of an ‘orphan drug regulation’. For example, an extra long patent applies, which leads to longer exclusivity on sales. An allowance for development costs is another such incentive.
“That works,” says Biemond. “Large pharmaceutical companies are researching new drugs. The disadvantage is that orphan drugs are often very expensive. This can be more than 100,000 euros per patient per year, after which it is considered whether that treatment falls under the health insurance.”
Although the Dutch health care system does not reimburse every expensive medicine, the quality of care is high, as Reynolds experienced when she suffered a crisis during a holiday in Ghana, the country of her parents’ birth.
“It took hours before I could be helped, while that can always be done quickly in the Netherlands. In addition, pain relief in Ghana was much worse; for example, there was a lack of an intravenous drip and the right medicines. In addition, there is no collective health care system; for most Ghanaian sickle cell patients, care is very expensive.”
Therapy
The treatment of sickle cell disease consists of trying to keep the number of crises (attacks) as low as possible, trying to prevent damage to organs and controlling the pain as much as possible. “Because doctors generally guide their patients for a very long time, the consulting room is also about dealing with the disease,” says hematologist Bart Biemond (Amsterdam UMC).
It is possible to get rid of the disease with a stem cell transplant, but this treatment is not suitable for everyone. A stem cell transplant also has side effects, with a risk of death of about 5 percent.
Reynolds’ situation is fairly stable; her last crisis was at the end of last year. She has a desire to have children and may consider a stem cell transplant afterwards. “Fortunately, my fiancé is not a carrier of the sickle cell gene, so our child will not develop sickle cell disease.”
In the near future, patients hope for a cure with so-called gene therapy, says Biemond. “Sickle cell disease can be cured by modifying the DNA in the stem cells that produce the blood, even without a suitable donor for a stem cell transplant. An application for this treatment is expected to be submitted to the European Medicines Agency before the end of this year.”
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