ASCAT 2023 | Treating SCD and thalassemia, and the need for early diagnosis and access to treatment

The essence of the conference is actually to talk about advancements and developments that are not only limited to certain areas. So if you go into the conference, you have people talking about management in high-income settings, in low-income settings. And the reason is that even though they require the same treatment, access can be a problem. You can have easy access where you have the funding, but also you can have limited access where funding is an issue because of competing health demands.

But among the very key advancements that actually we’re talking about here is curative therapy, which is like bone marrow transplantation and gene therapy. Bone marrow transplantation has been going on for a much longer period of time but gene therapy is just coming on, and we’re just waiting actually probably for an announcement whether gene therapy will be approved in the UK. But hydroxyurea is one of the treatments that’s been available and that is available universally and we want to make sure that we can increase that utilization in Africa.

But the other thing that we’re really working on in terms of progress in sickle cell disease is to improve newborn diagnosis. What I mean is that, if they are born with sickle cell disease and you don’t know that they have sickle cell disease, there will be no clear focus to make sure that you look after them. But if we can offer diagnosis, an early diagnosis, then we will be able to help parents, families and members who are within that kind of health system to support their treatment.

The reason why I mainly mentioned sickle cell disease, you’re quite right, is because sickle cell disease is the one that’s more [prevalent] in countries in Africa, like Nigeria, but thalassemia is actually very high in Egypt, very high in Lebanon. So for thalassemia there are less numbers, in terms of numbers in the UK we have less than a thousand, whereas in sickle cell disease we have about 17,000 with sickle cell disease in the UK. But the focus on thalassemia, they are similar conditions because they all have anemia and they also have iron overload, so iron is in excess, and they need to remove this iron by different types of treatment; and both of them also have a similar response to bone marrow transplantation and a similar response with gene therapy. So that’s why sometimes we deal with them together and sometimes advancement in one area actually can benefit the other area, particularly advancement in iron removing agents or chelation therapy, advancement in bone marrow transplantation, gene therapy- they actually can benefit both conditions. So that is because of the way thalassemia presents, it presents more uniformly than sickle cell disease, so you can easily know exactly what you need to do for thalassemia. So you can say, okay, I’m going to offer them very high risk treatment like gene therapy, bone marrow transplantation. Whereas in sickle cell disease you have to select who it is that you offer that kind of treatment to.