Protocol Details
Screening for Alpha Globin Deletions
This study is NOT currently recruiting participants.
Summary
Number | 16-I-0065 |
Sponsoring Institute | National Institute of Allergy and Infectious Diseases (NIAID) |
Recruitment Detail | Type: No longer recruiting/follow-up only
Gender: Male & Female
Min Age: 18 Years
Max Age: 39 Years |
Referral Letter Required | No |
Population Exclusion(s) | Children |
Keywords | Alpha Thalassemia;
Double Deletion |
Recruitment Keyword(s) | None |
Condition(s) | Alpha Thalassemia |
Investigational Drug(s) | None |
Investigational Device(s) | None |
Intervention(s) | None |
Supporting Site | National Institute of Allergy and Infectious Diseases |
Background:
Alpha thalassemia is a blood disorder. It 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. Researchers want to learn more about alpha thalassemia and blood vessels. This may allow them to develop new treatments for blood diseases such as sickle cell disease.
Objective:
To better understand how alpha globin deletions in healthy people affect blood vessels.
Eligibility:
Healthy volunteers ages 18-39 who self-report African ancestry.
Design:
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 will spit a small amount of saliva (less than half a teaspoon) into a collection tube.
Participants will close the funnel lid tightly, and then unscrew the funnel lid from the tube. They will then close the tube tightly with the small cap provided and shake the tube for 5 seconds.
Participants will place the tube in the provided envelope and mail it to NIH. The specimen will be stored and processed in the lab.
Participants may be invited to participate in more research studies, whether or not researchers find that they have alpha thalassemia trait.
Eligibility
INCLUSION CRITERIA:
Subject report of the following:
1. Age 18 - 39
2. Self-report of African ancestry
3. Willingness and legal ability to give and sign informed study consent
EXCLUSION CRITERIA:
There are no exclusion criteria for this screening protocol
Citations:
Piel FB, Weatherall DJ. The -thalassemias. N Engl J Med. 2014 Nov 13;371(20):1908-16. doi: 10.1056/NEJMra1404415. Embury SH, Dozy AM, Miller J, Davis JR Jr, Kleman KM, Preisler H, Vichinsky E, Lande WN, Lubin BH, Kan YW, Mentzer WC. Concurrent sickle-cell anemia and alpha-thalassemia: effect on severity of anemia. N Engl J Med. 1982 Feb 4;306(5):270-4. Straub AC, Lohman AW, Billaud M, Johnstone SR, Dwyer ST, Lee MY, Bortz PS, Best AK, Columbus L, Gaston B, Isakson BE. Endothelial cell expression of haemoglobin regulates nitric oxide signalling. Nature. 2012 Nov 15;491(7424):473-7. doi: 10.1038/nature11626. Epub 2012 Oct 31.
Contacts:
Clinical Trials Number:
NCT02692872