Sickle cell disease, while rare, is a painful and sometimes debilitating illness for the children that develop it. While the only cure is a risky bone marrow transplant, some promising new therapies were discussed at last week’s annual meeting of the American Society of Hematology.
One experimental treatment involves “switching on” a gene that makes fetal hemoglobin. When babies are in the womb, they make a different form of hemoglobin than that which adults have. Shortly after birth, a gene kicks in that begins the production of adult hemoglobin. Patients with sickle cell disease have faulty adult hemoglobin, which leads to the sickle-shaped red blood cells that cause the pain of the disease.
Another study looked at the use of hydroxyurea in children with sickle cell. The drug treats vaso-occlusive painful events, when the blood cells clump together and impede blood blow. These events cause severe pain, sometimes even leading to hospitalization. While hydroxyurea is the standard of care in treating these painful episodes for adults, there is hesitation among doctors and parents about giving it to children. Only about half of doctors that could be giving it to their patients actually do so, citing concern about side effects. However, it’s generally understood to work well in children and not pose any serious risks.
And finally, a particularly arresting fact was that H1N1 is considerably more severe and more likely to cause serious complications in children with sickle cell. Their risks of developing acute chest syndrome and needing intensive care such as ventilator support were three times as high as those for children without sickle cell.
A press release with much more detail is available here.