Pathophysiology of Sickle Cell Diseases

Sickle cell disease is an inherited blood disorder which affects nearly 70,000 Americans, most of whom are of African descent. A number of related conditions are categorized under sickle cell disease, including sickle cell anemia and beta-thalassemia.

Trait vs. Disease

• Sickle cell disease occurs when both parents carry a sickle cell or other abnormal trait (such as hemoglobin C). If one parent is a carrier, there is a 50% chance of passing on the trait. If both parents are carriers there is a 25% risk of having a child with the disease.

Sickling of Red Blood Cells

• Abnormal hemoglobin in affected blood cells causes them to take on a sickle or crescent shape, which prevents their smooth passage through blood vessels. This leads to clumping and blockage, weakened blood flow, pain, and tissue damage.

Anemia

• Normal red blood cells last about 120 days, but sickled cells expire after an average of 16. This rapid deterioration of red blood cells contributes to anemia.

Growth and Development

• According to a study conducted at Vanderbilt University Medical Center and published in 2009, children who have sickle cell anemia experience growth delays and develop at a slower rate than their peers

Life Expectancy

• The average life expectancy for someone suffering from sickle cell disease is 42 and 48 for males and females respectively. There is no known cure for sickle cell disease, but many treatment options exist to help manage it.