Sickle cell disease is a genetic illness that causes chest and joint pain, anemia, poor blood circulation, and a tendency towards infection. The mutation responsible for the disease causes a flaw in the process of building red blood cells—rather than round and flexible, the cells are rigid and sickle-shaped, which is what gives the disease its name. The disease is present from birth, an symptoms begin to appear shortly thereafter. People with sickle cell often have vision problems and are at greater risk of hypertension and stroke.
When a disease is genetically linked, it tends to be more prevalent in certain populations and ethnic groups; in particular, sickle cell disease is mostly found in black communities. As a result, the ravages of the disease are often compounded by racism, including in treatment facilities—either the patients are overlooked, or the facilities themselves are neglected by politicians and philanthropists. This has an effect on the treatment these patients are able to receive. This, in turn, makes them skeptical that health care providers are on their side and willing to help them. As a result, sickle cell patients frequently get suboptimal care.
This is a particular issue with sickle cell because management of the disease is so complicated. Patients need regular blood transfusions from a young age—ideally from donors who are especially well-suited to match people with sickle cell—physical therapy to prevent the effects of poor circulation, regular screening for high blood pressure, and therapy to ward off kidney disease. Bone marrow transplants can help some patients; however, this is a dangerous and drastic measure and matches are hard to find, although researchers are looking into ways to broaden the pool of potential matches.
Scientists are also looking into gentler bone marrow transplant procedures that may be lower risk. Transplanted bone marrow is a source of stem cells, which can be used to create correctly shaped red blood cells, undoing the damage. The usual marrow transplant procedure starts with an intense course of chemotherapy to completely destroy the patient’s own bone marrow, which is then replaces with the donor’s. Recently, medical professionals have begun looking at partial transplant, which avoid the dangers of chemo. In initial testing, this has been successful, but there is larger-scale testing still to come.