A cut. A scrape. A bloody nose.
Many children and adults know how to clean and care for bleeding from a minor injury. But what do you do when you face a problem with the blood itself—like sickle cell disease, a potentially life-threatening blood disorder?
We posed several questions about the condition to Pediatric Hematologist/Oncologist Karim Thomas Sadak, MD, who sees patients in the pediatric sickle cell disease program at University of Minnesota Masonic Children’s Hospital, and Hematologist/Oncologist Gregory Vercellotti, MD, who sees adult patients at our University of Minnesota Health Clinics and Surgery Center.
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. 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 causes pain, which is sometimes very severe.
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, abdomen 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 frequent infections. Because sickle cell disease is a chronic condition, these symptoms may continue into 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 or an oral daily medicine called Hydroxyurea, which can reduce the frequency of pain crises by increasing hemoglobin F in red blood cells. Blood transfusions are often a part of regular care for patients with sickle cell disease, but this therapy can lead to an iron overload in blood, which may damage organs. A bone marrow transplant or stem cell transplant is the only option for curing the disease. This procedure replaces the cells that make your blood with healthy cells. The transplant procedure has many side effects, so it is usually only done in severe cases and when people meet certain health criteria. Early diagnosis is crucial for proper management of the disease.
"Often, with the appropriate sickle cell care as a child, sickle cell disease-related symptoms can be prevented or controlled in early childhood so that they don't cause difficulty for patients as they grow into adulthood," Sadak said.
The current research initiatives of Kalpna Gupta, PhD, here at the University of Minnesota focus on the mechanisms of pain in sickle cell disease and pain management medication (like opioids, cannabinoids and other evolving therapies). Gupta’s laboratory is conducting research to improve quality of life by finding new ways to reduce chronic and acute pain related to sickle cell disease. She has earned multiple research grants from the National Institutes of Health and other similar funding agencies, which has helped us become a leader in the development of new treatment strategies for sickle cell disease.
A team of University of Minnesota researchers including Vercellotti—who is a member of the National Heart, Lung and Blood Institute’s Sickle Cell Disease Advisory Committee—are also testing new therapies to prevent sickle-shaped red blood cells from sticking to the walls of blood vessels. These therapies and new anti-inflammatory drugs may prevent blood vessel blockage, which causes organ damage and pain among sickle cell disease patients.