Genetics of sickle cell disease

Genetics of Sickle Cell Disease 

What is Sickle Cell Disease? 

Sickle cell disease (SCD) is a sickness that can run in families. It happens when someone’s red blood cells that carry oxygen do not work as well as they should. This causes the blood cells to be shaped like crescent moons instead of circles. When the blood cells are this shape, they can’t move through our body as easily and prevent proper oxygen flow to the body. 

• Body pain 
• Feeling tired and weak
• Skin and eyes turning yellow
• Getting sick often
• Organs in the body getting damaged.

There are not many ways to cure SCD, but it can be managed with medicine as well as providing more or new blood. 

How is the research done?

Researchers at Vanderbilt want to learn more about SCD and discover if it is linked to heart, lung and or kidney diseases. They believe that genetic traits that cause heart, lung, and kidney disease are linked to early death in SCD patients. The study focuses on SCD patients from 4 hospitals, including Vanderbilt. The research will look closely at DNA before and after SCD treatment. The information from DNA can be used  to predict which SCD patients could have risks for heart, lung, and kidney diseases. The researchers will also check if some genetic traits that are more common if African Americans with heart lung and kidney diseases are linked to a more serious form of SCD. The goal of the study is to find out what genes cause SCD or can make it worse to make better treatments for people who have it.

What is the importance of this study?  

We are learning more about how heart, lung, and kidney diseases can make people with SCD very sick or even die earlier. As we learn more, we can give better treatment to people with SCD now and prevent them from getting sick in the future. This will help people with SCD live longer and healthier lives.