Sickle cell disease is an inherited disease that causes a structural problem in the hemoglobin contained in a person’s red blood cells. Normally, red blood cells are shaped like concave discs. But patients with sickle cell disease have cells that take on the shape a crescent or "sickle” under low oxygen conditions. This causes a plumbing issue in the blood vessels.
Overview
The abnormally shaped red blood cells can adhere to the walls of blood vessels, and may build up over time to create blockages. These blockages prevent the red blood cells from doing their primary job: delivering oxygen to body tissues. Without oxygen, the cells in bones and organs begin to die. This process often causes pain, which is sometimes very severe requiring hospitalization, but can also lead to stroke or blood clots, even in children.
Symptoms of sickle cell disease usually begin when a child is four months of age or older. Pain episodes caused by oxygen shortages to organs or tissues are among the most common symptoms of sickle cell disease. These episodes are called "pain crises.” Pain severity and location vary; it can occur in the bones, chest, back, and other areas.
Other symptoms of sickle cell disease include fatigue due to anemia, which occurs when sickle-shaped red blood cells break apart and die before they can deliver oxygen to the body; delayed growth; and pneumonias. Because sickle cell disease is a chronic condition, sometimes causing silent damage over time, these symptoms can accumulate with added health problems in adulthood. Pregnancy can also be challenging for those diagnosed with sickle cell disease.
Sickle cell disease is a lifelong health condition and thus most treatments are also lifelong. Some therapies actually help prevent associated problems; these include antibiotics, oral medications, or monthly medication infusions which can reduce the frequency of pain crises and severity of anemia. Blood transfusions may be part of regular care for patients with sickle cell disease as well.
Our approach
Research is underway at M Health Fairview to find better ways to treat and manage sickle cell disease. Current research is focused on the mechanisms of pain in sickle cell disease and pain management medication (like opioids, cannabinoids, and other evolving therapies).Alex Boucher, MD, is conducting studies to improve patient experiences for children and adults, especially at the transition point into adult care. The research and clinical care teams also regularly team up with other leading research institutions and pharmaceutical companies to provide patients and families with opportunities to participate in cutting-edge research if they choose.
A blood and marrow transplant has historically been the only option for curing the disease, and providers at M Health Fairview have led the country in advancing transplant care. This procedure replaces the cells that make your blood with healthy cells. The transplant procedure has risks of side effects and requires a second person as a donor, which has limited access. In recent years, gene therapy, which is a technique that modifies a patient's own blood cells to stop them from sickling, is transforming people's lives and is the leading area of research. Researchers here have been participating in these studies for years, and M Health Fairview has been the leading site in a 5-state region for providing gene therapy access for families. Ultimately, early diagnosis and regular preventive care are crucial for proper management of the disease.
M Health Fairview provides lifespan care and a patient and family centered comprehensive approach as a foundation. This means that families can get care from infancy through adulthood in the same medical system and that in addition to utilizing a regular team of doctor, advanced practice provider, nurse care coordinator, primary care, and social work, access to other specialists is all within the system and the focus is helping patients thrive as individuals overcoming sickle cell disease rather than being defined by it.
