Sickle cell disease is an inherited red blood cell disorder that causes abnormal hemoglobin called sickle hemoglobin. It is the most common single-gene disorder in the United States and worldwide.
Sickle cell disease causes sickle hemoglobin to form long chains, triggering the red blood cells to take on a crescent shape when they release oxygen. These crescent-shaped cells can’t travel through blood vessels well and break down quickly, leading to the most common problems in sickle cell disease: anemia and blockage of the flow of blood in the tissues.
Over time, because of sickling of the red blood cells, patients can also develop chronic organ damage to almost any organ. Bone, kidney, lung and spleen are the most common sites of chronic damage. Currently, there is no cure for sickle cell disease except for a bone marrow transplant.
About 100,000 people in the United States are diagnosed with sickle cell disease. One in 13 African Americans carry the sickle cell trait, and many do not know they have it.
Despite it being fairly common, many myths surround sickle cell disease:
Myth 1: I am going to catch sickle cell disease from a friend.
This is simply not true. Sickle cell disease is not a virus or infection. You will not catch it from another person. People with sickle cell disease have it because they inherited two sickle cell genes, one from each parent.
Myth 2: The sickle cell trait can turn into sickle cell disease.
Sickle cell disease and the sickle cell trait are two separate things. If a baby only inherits a single sickle cell gene, she or he has the sickle cell trait, but will not develop sickle cell disease. A child must inherit two sickle cell genes to develop the disease. Children of parents who have sickle cell disease are obligate carriers of the gene, and have a 25% chance of having a child with sickle cell disease if he or she has children with someone who has the trait.
Myth 3: The patient with sickle cell disease is drug-seeking.
This is likely the most common myth. Sickle cell disease pain is real, and just because patients have learned to distract themselves with their phone or video games or TV, doesn’t make their pain any less real. Individuals with Sickle cell disease should choose providers who are educated about the nature of the pain associated with the disease, so that they can get the relief they need.
Myth 4: Sickle cell disease patients are just addicted to their pain medication.
Again, sickle cell disease patients often develop chronic recurrent pain related to their disease, and unfortunately, there are no good studies showing the benefit of alternative therapies for their pain other than narcotics. Their pain needs to be treated adequately. Most patients with sickle cell disease have a far shortened lifespan compared to the general population, living on average to only their mid-forties. However, most patients who can maintain themselves on some degree of disease-modifying antisickling agent tend to do better than others.
When babies are little and identified as having sickle cell disease early, providers should take the following course of action:
- Family education and counseling, making sure the family understands the type of disease the patient has and any potential complication risk factors .
- Preventive therapy such as penicillin prophylaxis, immunizations, and appropriate screening (for stroke and other conditions) at the appropriate time.
- Disease-modifying therapy including hydroxyurea, blood transfusion, L-glutamine (5 and over), voxelotor (12 and over), and crizanlizumab (16 and over), all of which provide some degree of relief from acute complications and potentially slows chronic organ damage that occurs in patients with sickle cell disease.
While Sickle cell disease cannot be cured at this time, symptoms can usually be managed with a range of medications, including those that address ongoing chronic pain. These treatments are incredibly important to help sickle cell disease patients improve their quality of life to the extent possible.