Screening for Alpha Thalassemia in Healthy Volunteers

NCT02692872 | Active Not Recruiting

• 2 other identifiers: 16006516-I-0065
• Study Type: observational
• Target: 367
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Alpha Thalassemia

Keywords

Alpha Thalassemia; Double Deletion

Outcome Measures

Primary Outcomes (1)

• Identify Presence of Double Alpha Globin Deletions in Healthy Volunteers.

  As this is not a treatment protocol, there is no primary endpoint. The primary objective is to identify presence of double alpha globin deletions in healthy volunteers.

  Ongoing

Study Arms (1)

1

We plan to perform genetic screening of up to 2,000 individuals of African ancestry, an ethnic group with a high prevalence of alpha thalassemia.

Eligibility Criteria

• Age: 18 Years - 39 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

All subjects ages 18 through 39 will be considered for the protocol. We have excluded anyone age 40 and older in order to avoid confounders of older age and cardiovascular disease in asymptomatic subjects. No subject will be excluded from participation based on gender. Subjects will be enrolled based on self-report of African ancestry given the higher prevalence of the genetic mutation in these populations.

You may qualify if:

• Subject report of the following:
• Age 18 - 39
• Self-report of African ancestry
• Willingness and legal ability to give and sign informed study consent

Sponsors & Collaborators

• National Institute of Allergy and Infectious Diseases (NIAID): lead

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

Location

Related Publications (3)

• Piel FB, Weatherall DJ. The alpha-thalassemias. N Engl J Med. 2014 Nov 13;371(20):1908-16. doi: 10.1056/NEJMra1404415.

  PMID: 25390741 BACKGROUND

• 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. doi: 10.1056/NEJM198202043060504.

  PMID: 6172710 BACKGROUND

• 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 alpha regulates nitric oxide signalling. Nature. 2012 Nov 15;491(7424):473-7. doi: 10.1038/nature11626. Epub 2012 Oct 31.

  PMID: 23123858 BACKGROUND

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

alpha-Thalassemia

Condition Hierarchy (Ancestors)

Thalassemia; Anemia, Hemolytic, Congenital; Anemia, Hemolytic; Anemia; Hematologic Diseases; Hemic and Lymphatic Diseases; Hemoglobinopathies; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Amy P Ruhl, M.D.

  National Institute of Allergy and Infectious Diseases (NIAID)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: OTHER
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 25, 2016
• First Posted: February 26, 2016
• Study Start: April 17, 2017
• Primary Completion (Estimated): December 31, 2027
• Study Completion (Estimated): December 31, 2027
• Last Updated: April 24, 2026

Record last verified: 2026-03-13

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)