Sickle Cell Hemoglobin C Disease, also known as HbSC disease, is a genetic blood disorder characterized by the presence of abnormal hemoglobin in the red blood cells. It is a type of sickle cell disease that results from a combination of two abnormal hemoglobin genes, one from each parent.
Hemoglobin is a protein found in red blood cells that carries oxygen throughout the body. In individuals with sickle cell hemoglobin C disease, there is a mutation in both the hemoglobin A gene and the hemoglobin C gene. This mutation leads to the production of abnormal hemoglobin molecules, which causes the red blood cells to become rigid and assume a sickle-like shape when exposed to low oxygen levels.
The sickling of the red blood cells can cause a variety of symptoms and complications. The abnormal shape of the cells hinders their ability to flow smoothly through blood vessels, leading to the blockage of small blood vessels. This can result in episodes of pain, organ damage, and an increased risk of infections. Individuals with sickle cell hemoglobin C disease may also experience chronic anemia, fatigue, jaundice, and delayed growth and development.
Treatment for sickle cell hemoglobin C disease focuses on managing symptoms and preventing complications. This may include pain management, blood transfusions, supplemental oxygen therapy, and the use of medications to reduce the frequency and severity of pain crises. Genetic counseling is also recommended for affected individuals and their families to better understand the disease, its inheritance pattern, and available treatment options.
