HBB Gene and Sickle Cell Disease
Description
Sickle cell disease affects the shape of the red blood cells in our body, which can affect the oxygen carried to the rest of the body. The red blood cells become sickle-shaped, making it harder to pass through the body. Sickle cell disease affects around 100,000 people in the United States (CDC). More than 90% are African American or non-Hispanic black, and 3%-9% are Hispanic or Latino (CDC). Some mutations have been reported that are related to sickle cell disease, with HBB mutations highly correlated with sickle cell. This study aims to evaluate the specific missense mutations associated with HBB.