Sickle cell disease occurs in about one out of every 365 births of Black children in the U.S., according to the Centers for Disease Control and Prevention. About one in 13 Black or African-American children are born with sickle cell trait.
September was declared National Sickle Cell Awareness Month to bring awareness to the disease.
According to the CDC, red blood cells are healthy when round. Sickle cell disease, named for the blood cells' c-shape, occurs when red blood cells have abnormal hemoglobin.
Shenika Richardson, board chairperson at nonprofit Bridges Pointe, Inc., said she has sickle cell disease and has had over 50 blood transfusions in her lifetime. Bridges Pointe, Inc. focuses on the development of supportive services for individuals with sickle cell disease.
“I would say sickle cell disease has impacted every aspect of my life,” she said.
Richardson also said that sickle cell disease has affected multiple organs and caused fertility issues, including a loss of pregnancy.
Blood transfusions help protect people with sickle cell disease from complications, including severe anemia and strokes. Blood drives can help meet the demand for supplies, aiding those in need.
In her day-to-day routine, Richardson said she has to keep her triggers in mind as they can worsen her symptoms from the disease. Triggers such as stress, overexertion and extreme temperatures force her to pay closer attention to her overall health.
She said she drinks a lot of water to stay hydrated, makes sure to get enough rest and keeps up with her doctor’s appointments.
Richardson said she came to North Carolina from Florida after college. While looking for a sickle cell support group, she came across Bridges Pointe, Inc., which she said has helped her with accessing healthcare resources.
“I seek care at Duke — the Duke Sickle Cell Comprehensive Center — and also I have a primary care doctor,” Richardson said.
According to the CDC, sickle cell disease occurs most often among people with ancestry from areas where malaria is or was common.
“I think it is hard to understand, outside of ethnicity, why some inherited diseases like cystic fibrosis and hemophilia have a lot of foundation or government support, and something like sickle cell has had a much more patchy access to resources,” Dr. Jane Little, director of UNC's Comprehensive Sickle Cell Disease program, said.
If someone has two copies of a mutant hemoglobin gene, the result is sickle cell disease. Having only one copy, however, allows for resistance against malaria. Typically, those with sickle cell trait display no signs or symptoms of sickle cell disease — which is why it’s important to get tested.
The only known cure for the disease, at this time, are bone marrow transfusions. These require a close relative to donate bone marrow to a patient with sickle cell disease.
Dr. Maria Boucher, clinical assistant professor at UNC’s division of pediatric hematology and oncology, said she hopes there is more of a movement for alternative medications to make a difference.
Gene therapy, a method of treatment which uses a patient's own blood stem cells, is undergoing trials as another option for patients without close relatives who can give bone marrow.
Boucher said that gene therapy works in different ways — either fixing an incorrect gene or adding a new gene to help with the production of normal hemoglobin.
According to the Children's Hospital of Philadelphia, all gene therapies for sickle cell disease are currently considered experimental.
“Basic science and clinical research – both will help us better take care of a brand new population of adults that have sickle cell disease,” Little said.
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