Screening for Alpha Globin Deletions in Healthy Volunteers - Protocol Description [NCT NCT02692872, NIH protocol 16-H-0065]
Our team wants to learn more about alpha thalassemia and blood vessels. Alpha thalassemia is a blood disorder that is caused by genetic deletions. Part of the DNA is missing from a group of genes called alpha globin. Alpha thalassemias are some of the most common genetic deletions. We are testing for alpha thalassemia trait. Alpha thalassemia trait is when someone has only two out of the normal four alpha globin genes. In some people, they lead to no symptoms. Others have changes that lead to disease, including mild anemia. This may allow researchers to develop new treatments for blood diseases such as sickle cell disease.
We are enrolling healthy volunteers ages 18 to 50 who self-report African ancestry. Participants will provide a one-time saliva sample. This can be by mail, in-person at a study event, or at NIH. Participants will get a small kit to collect their saliva sample. The kit has easy instructions. The sample does not need to be put in the refrigerator. Participants may be invited to participate in more research studies, whether or not researchers find that they have alpha thalassemia trait.
For further information on any of these studies, please contact the Office of Patient Recruitment at 1-800-411-1222 or via email at PRPL@cc.nih.gov. Please reference study number NCT02692872.