Sickle cell anemia is a hereditary blood disorder that ultimately leads to impaired oxygenation of tissues. A mutation in hemoglobin, the oxygen-carrying protein in blood, causes the protein to clump together and distort the red blood cells (normally round) to a sickle shape. These abnormally shaped red blood cells do not flow smoothly through small blood vessels, become trapped, and can block the flow of blood to various organs in the body. This leads to repeated, excruciatingly painful episodes for patients throughout their lives. Sickle cell anemia affects people of African descent almost exclusively, and 8% of African-Americans carry a silent copy of the mutated gene.
The fetus makes a completely different type of hemoglobin from adults, and after birth, there is fetal hemoglobin circulating for about six months. Because the fetal hemoglobin does not contain the sickle cell mutation, babies do not show symptoms until after six months of age. The first manifestation of sickle cell anemia is often dactylitis (hand-foot syndrome), caused by blockage of blood flow to the extremities, which is what our patient suffered from. The lack of blood flow can occur in virtually any organ of the body, leading to unfortunate complications such as joint problems, kidney disease, stroke, susceptibility to infection, and more.
Sickle cell anemia is usually diagnosed before or just after birth in the US, since there are genetic screens available. Sadly, there is no cure for the disease. When patients have a painful episode, they are managed with pain control, oxygen, and hydration. Patients have a shortened life span, with a median in the fifth decade of life. Let me know if you have any questions about this devastating blood disorder.