The Top Ten Things You Should Know About Sickle Cell Disease
SEPTEMBER 1, 2023
THE TOP TEN THINGS YOU SHOULD KNOW ABOUT SICKLE CELL DISEASE
10. Sickle cell disease (SCD) is a genetic disorder caused by a mutation in the hemoglobin gene. People with SCD inherit two copies of the mutated gene, one from each parent.
9. The mutated gene causes the production of abnormal hemoglobin, a protein in red blood cells that carries oxygen, which makes red blood cells misshapen, rigid, and sticky.
8. The disease is characterized by episodes of severe pain that factors like stress, dehydration, infection, and exposure to cold temperatures can trigger. The pain can affect various body parts and last for days to weeks.
7. The misshapen red blood cells can block blood flow, leading to organ damage and other severe complications such as stroke and liver and kidney damage. Because the infected cells have a shorter lifespan, they commonly cause chronic anemia (low red blood cell count), which causes fatigue and weakness.
6. SCD is inherited in an autosomal recessive manner, meaning both parents must carry a copy of the mutated gene for their child to have the disease. If both parents are carriers, each child has a 25% chance of having SCD.
5. Northern Uganda has a significant prevalence of the mutated gene, ranging from 15% to 25% of the population, depending on the specific location. Consequently, the region carries one of the highest burdens of cases of SCD in East Africa.
4. The Sickle Cell Clinic at Lacor Hospital began receiving patients in 2009. Since its inception, 2500 patients have enrolled for treatment. Currently, there are 652 patients receiving treatment.
3. Lacor Hospital was recently named A Center of Excellence for Sickle Cell Disease Treatment. The criteria met for achieving this status include the Hospital’s ability to research the disease, the presence of a clinic devoted to the condition, and the availability of trained specialists to care for the patients.
2. Treatment focuses on relieving symptoms and managing complications. Patients at Lacor Hospital undergo blood testing at each visit, are screened for pain management, and receive medication such as hydroxyurea.
1. Many countries have implemented newborn screening programs to identify babies with the disease early, allowing for prompt medical intervention and management. Staff at Lacor Hospital have recently undergone training to begin screening newborns, and the government has provided some screening kits.