The Haemoglobin SS (HbSS) form of sickle cell disease occurs when a person receives an abnormal haemoglobin S gene from each parent. HbSS is associated with severe effects as a result; along with anaemia, many people experience significant pain, organ damage, vision issues, and a heightened risk of blood clots and strokes.
There are several effective sickle cell disease treatments that currently exist. Additionally, doctors continue to develop new approaches that may be able to cure the condition altogether.
Two types of transfusions are used to manage the effects of HbSS. Red blood cell transfusions boost the number of healthy red blood cells within the body, while acute transfusions address the effects of anaemia, which include fatigue and weakness. Because HbSS is associated with more severe health effects, transfusions may be needed regularly.
A type of chemotherapy drug, hydroxyurea alleviate pain crises (sudden attacks of pain) and severe anaemia. It can also treat acute chest syndrome, a serious complication that causes problems breathing and decreased oxygen levels in the blood. Other HbSS medications include L-glutamine, crizanlizumab, and voxelotor.
Stem cell or bone marrow transplants can effectively cure sickle cell disease, but finding a suitable donor is highly challenging. In fact, only a small percentage of people can secure a compatible donor and undergo the procedure.
Promising gene therapies may one day be able to cure sickle cell disease in those afflicted. One therapy works by supplying a healthy haemoglobin gene, while another therapy reduces the effects of abnormal haemoglobin by triggering the production of foetal haemoglobin, which does not have deficiencies like the faulty haemoglobin S gene. Research is ongoing, and doctors hope these therapies become widely available soon.