There was a report yesterday on a new treatment for people with sickle cell disease - an affliction that occurs mostly in people of African descent.
One of the first patients to access a ground-breaking treatment for sickle cell disease on the NHS says she is “over the moon” to have received the “lifechanging” new drug.
Loury Mooruth, 62, from Walsall in the West Midlands, is one of the first people to receive crizanlizumab at Birmingham NHS Trust – the first new treatment for sickle cell disease in over two decades.
The new treatment, crizanlizumab, will reduce chronic pain, trips to A&E and will dramatically improve patients’ quality of life.
Thanks to an NHS drug deal, as many as 5,000 people will be treated over the next three years – much earlier than would have otherwise been possible.
It doesn’t affect me personally, but I did wonder how these sufferers manage in the USA where I guess many African Americans are not well covered by health insurance.
As I understand it, sickle cell anemia affects people of 100% African descent. And, from a specific region in Africa where malaria is prevalent. It is the result of a mutation that protects from malaria if one parent carries it. If both parents carry it you will see sickle cell anemia. No (or very, very few) American black people are 100% African, unless they moved here very recently. It is not an issue that American black people deal with.
Nevermind. OP asked about black Americans and sickle cell anemia. Most black Americans have other genetic admixture which makes it less likely 2 people would encounter each other and have offspring that would suffer from that disease.
The disease, which can be crippling for many sufferers causes a wide range of other problems like delayed growth during childhood and delayed puberty; gallstones, jaundice and bone and joint pain plus a long list of others.
It seems to be exacerbated by cold weather, so perhaps those who live in Southern States show fewer symptoms.
No, it’s not a quantitative trait, it’s a mutation in a single hemoglobin gene. Mendelian inheritance applies. Although admixture reduces the probability of being a carrier, whether you carry the mutation or not is a binary state.
I was thinking about sickle cell recently, in the fact that you don’t seem to hear much about it anymore. I seem to remember it mentioned a lot on TV in the 1980s, adding drama to Very Special Episodes of TV sitcoms where a tragic character is introduced for that episode, and similar. Anyone else remember that?
I remember it showing up in an episode from House: Selfish.
When I was working in the U.S., I had a coworker from Ghana. He and his wife had their first baby and had recently received the news that the baby had sickle cell. He left the company soon after that - he wanted a job that didn’t have such a long commute so he would be nearby to support his wife when/if their child was sick.
I do hope this treatment is made accessible to those who cannot otherwise afford it.
Short version: while most common in people who are visibly of African descent sickle cell can and has appeared in people of other ethnic groups anywhere that malaria is or recently was a significant disease in the population. Including Central America and in White people in the American South (who, probably, were not quite as pure in European ancestry as they thought they were).
First - virtually no one is “100%” any ethnic group. Humans are one big species, a species that has been moving around and interacting for a very long time. Since before we were H. sapiens in fact but our current iteration of humanity has only magnified the tendency to wander and interbreed. In other words, we’re all “mutts”. This means a trait, especially a single-gene trait (like sickle cell) can travel from its group of origin to other groups, especially if it confers any sort of advantage to someone possessing it. Sickle cell disease is a disaster, but having just one copy of the gene confers resistance to malaria, which is still a major killer.
The “specific region” of the world where sickle cell trait comes from is pretty damn large - it’s “sub-Saharan Africa” which is the majority of that continent. The people of this region also, unfortunately, were forcibly moved to other parts of the world as part of the colonial-era slave trade. Between the tendency of people to hook up with each other, as well as legalized rape between owners and slaves, the sickle-cell trait entered into the gene pools of other nations around the world. As a result, while sickle-cell disease is still more common in those with a lot of African ancestry it can show up in people who have the appearance of an entirely different ethnic group.
But a big deal to have done, and an expected initial price tag north of $2 million.
Still price may come down with process improvements and competition, and the lifetime costs of sickle cell care avoided are hefty too.
Nevertheless even if rich Western countries do eventually cover it for their citizens, it seems improbable that the bulk of those with the disease across the world will have access.