What is Sickle Cell Disease?

Sickle Cell Disease (SCD) is an inherited blood disorder caused by a genetic mutation, resulting in the production of an abnormal hemoglobin molecule called hemoglobin S (HbS) instead of the normal hemoglobin, hemoglobin A (HbA). HbS causes the red blood cells (RBCs) to form a sickle-like shape (“sickle cells”) instead of their normal disc-like shape, which affects their ability to function and survive. SCD can result in serious health issues including organ damage, severe anemia, pain, and even death.

Impact of Sickle Cell Disease

Sickle Cell Disease is most common among people of African descent, but can affect people of Mediterranean, Middle Eastern, and Indian descent as well. The disorder can be debilitating and is estimated to affect over 100,000 people in the U.S. alone. SCD is the most common genetic disorder among African Americans, with estimates of up to 1 in 375 having the condition. In addition, the life expectancy of someone with SCD is greatly reduced, with the majority of patients not living past the age of 40.

Treating and Managing Sickle Cell Disease

The key to successful management of Sickle Cell Disease is early detection and treatment. Treatment of SCD usually includes medications such as antibiotics, pain medications, and blood transfusions, as well as lifestyle changes such as dietary modifications, hydration, and exercise. In addition, many patients require supportive therapies such as physical therapy and psychosocial support. Bone marrow transplantation (BMT) is also an effective treatment for SCD, although it is not an option for most patients. New treatments, such as gene therapy, are being developed and are showing promise in treating SCD.

In summary, SCD is an inherited blood disorder caused by an abnormal hemoglobin molecule, resulting in the formation of sickle-shaped red blood cells, resulting in symptoms including organ damage, severe anemia, pain, and even death. SCD is most common among people of African descent, but can also affect other populations. The key to successful management of SCD is early detection and treatment, including medications, lifestyle modifications, supportive therapies, and, in some cases, BMT. New treatments are being developed and are showing promise in treating the condition.