In sickle cell disease, a mutation causes the normally “disk-shaped” red blood cells that transport oxygen throughout the body to be deformed into a rigid sickle-like shape. As a result, the cells can become trapped in narrow blood vessels, restricting blood flow and preventing oxygen from efficiently reaching all parts of the body. This causes inflammation, damage, and pain among other symptoms. Because the defective red blood cells are recycled quickly by the body, the condition can also be associated with abnormally low red blood cell counts.
Sickle cell disease may be cured in some individuals by stem cell transplants, and there also are several approved therapies to help manage the condition and its related complications.
Stem cell transplant
The stem cells in the bone marrow are the source of all new blood cells in the body. A stem cell transplant is intended to replace the stem cells in a patient’s bone marrow with those obtained from a healthy donor. This should result in the production of normal red blood cells.
A stem cell transplant requires finding a suitable donor for the patient, which can be difficult and may not be possible for some individuals. The procedure itself also can be very risky. It involves using chemotherapy to destroy the blood-producing cells in the patient’s bone marrow and then reseeding the bone marrow with donor cells.
The mutation that causes sickle cell disease is in the HBB gene, which provides the instructions to make adult hemoglobin, the protein inside the red blood cells to which oxygen binds.
Hydroxyurea acts to promote the production of another type of hemoglobin, called fetal hemoglobin, which is normally only produced during development. This type of hemoglobin is very effective in oxygen transport. Hydroxyurea may, therefore, help manage pain and other complications associated with the condition.
Endari (L-glutamine), developed by Emmaus Life Sciences, is a therapy that acts to make red blood cells more flexible, reducing their risk of becoming trapped inside blood vessels. This improves blood flow and ultimately increases the amount of oxygen reaching tissues.
Another approved treatment for sickle cell disease is Oxbryta (voxelotor), developed by Global Blood Therapeutics. Oxbryta targets the abnormal hemoglobin that causes the disease. It prevents hemoglobin from sticking together, which destabilizes the large aggregates, or clumps of sickled cells that block blood vessels and prevent blood flow in people with sickle cell disease.
Adakveo (crizanluzumab), developed by Novartis, is also approved as a treatment for sickle cell disease. It contains an antibody that blocks a protein in the blood vessels that binds to sickle cells, causing pain and inflammation when the sickle cells block blood flow.
Treatments to manage pain
Pain is a common symptom of sickle cell disease. It may be managed through various treatments, depending on its severity.
Common pain medications include nonsteroidal anti-inflammatory drugs, or NSAIDs, which include ibuprofen, diclofenac, or acetaminophen. If the pain continues, it can be treated with opioid narcotics, such as codeine, or stronger opioids such as morphine. Acute pain caused by sickle cell disease can be treated using ketamine.
Treatments to manage infections
Preventing infections, or treating them quickly if they occur, is essential for people with sickle cell disease. Children with the disease can benefit from receiving daily doses of penicillin from as early as age 2 months, and should be kept up-to-date with routine vaccinations.
If infections occur, they should be quickly treated with the appropriate antibiotic medications.
A transfusion of red blood cells from a healthy blood donor can temporarily increase levels of healthy red blood cells in the patient’s body. This can help relieve the symptoms of sickle cell disease, but may also be used as a preventive measure for complications such as stroke in high-risk patients.
Last updated: Dec. 5, 2019
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