Genetics of sickle cell disease (SCD) and clonal hematopoiesis of indeterminate potential (CHIP)

What is Sickle Cell Disease (SCD) and Clonal Hematopoiesis of Indeterminate Potential (CHIP)?

Blood diseases are health problems that affect the way blood works. SCD and CHIP are two different types of blood diseases. SCD happens when blood cells are shaped like crescent moons instead of circles. This prevents proper oxygen flow and blood movement through the body. CHIP is a blood disease that affects the way blood cells grow and divide. The blood cells grow and behave differently than healthy blood cells. Those with CHIP may experience little to no symptoms. Symptoms of SCD can include: 

• Body pain 
• Feeling tired and weak
• Skin and eyes turning yellow
• Getting sick often

Both conditions can lead to health problems with the heart, lungs, and kidneys. These problems can get worse over time and can make someone very sick or even cause death. Symptoms can be managed with medication. Medical professionals can also help keep an eye on any serious health problems that might develop. 

How is the research done?

The research team wants to see if those with SCD might be more likely to get CHIP. The team will use BioVU resources to study those with and without SCD. They will look for genes linked to developing SCD. They want to see if there are certain genes that cause people to have health complications with SCD. They will also look at those with and without SCD and CHIP. They want to see if there are any genetic changes linked to those with SCD developing CHIP.  They hope this information will help better understand SCD and find ways to help people who are at high risk for developing serious health problems. 

What is the importance of this study? 

SCD and CHIP are blood conditions that can lead to additional health complications. This research can help learn more about these conditions and how they are developed. This research may also show if and why those with SCD are more likely to develop CHIP. This can be helpful for improving the lives of those with SCD and CHIP.