Alpha ThalassemiaNCT02692872
Screening for Alpha Thalassemia in Healthy Volunteers
An observational study of Alpha Thalassemia, run by National Institute of Allergy and Infectious Diseases (NIAID) at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 to 39 yearsHealthy volunteers can take part
- Conditions the study is for
- Alpha Thalassemia
- How many people
- 367 participants
- Where
- 1 siteUnited States
- Study dates
- 17 Apr 2017to 31 Dec 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 39 years
- All sexes
- Healthy volunteers accepted
- Adult
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.
Who may be able to join
- Subject report of the following:
- Age 18 - 39
- Self-report of African ancestry
- Willingness and legal ability to give and sign informed study consent
Who cannot join
- There are no exclusion criteria for this screening protocol
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
About this study
Official title: Screening for Alpha Globin Deletions
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.
Read more
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.
Read the detailed description
Many of the complications of sickle cell disease, such as stroke, kidney damage, skin ulceration,pulmonary hypertension, and cardiac hypertrophy are prevented, delayed or reduced by inheritance of one of more deletions of the alpha globin genes. Our long-term research goal is to understand how deletions of alpha globin protect against the vascular complications of sickle cell disease.
Deletions of alpha globin are common and found in approximately 5% of the world s population.They are especially common among Africans and people of African ancestry, as well as in India, China, and the Pacific Islands, where prevalence can range from 5 - 80%. A single deletion has little effect on the red blood cell, but two deletions can give rise to alpha thalassemia, a mild microcytic anemia. Patients with sickle cell disease who have two alpha globin deletions tend to have a higher hemoglobin level, smaller red blood cells, and a lower fraction of circulating reticulocytes - consistent with decreased hemolysis and red cell turnover. They also have a lower number of dense or irreversibly sickled cells. These changes might explain why alpha globin deletions reduce the severity of sickle cell disease.
However, a novel function for alpha globin as a regulator of endothelial nitric oxide (NO) has recently been identified that raises new questions about how alpha globin deletions protect against sickle cell disease. We hypothesize that individuals with two alpha globin deletions will have decreased gene expression and protein levels of alpha globin in vascular endothelium, permitting more NO to diffuse across the myoendothelial junction, compared to individuals who have all four alpha globin genes intact. In this protocol we will screen healthy volunteers to identify those with two alpha globin deletions; these individuals as well as matched controls will be referred to a separate protocol to undergo studies of vascular endothelial function.
- Conditions
- Alpha Thalassemia
- Keywords
- Alpha Thalassemia, Double Deletion
- Medical subject headings
- alpha-Thalassemia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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. |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: Ongoing
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Feb 2016 (estimated)
- Study start17 Apr 2017
- Primary completion31 Dec 2027 (estimated)
- Study completion31 Dec 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Alpha ThalassemiaStudies of the same condition, open and under way.
- More trials run by National Institute of Allergy and Infectious Diseases (NIAID)The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Other
- Enrolment
- 367 participants (actual)
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Amy P Ruhl, M.D., Principal investigator, National Institute of Allergy and Infectious Diseases (NIAID)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02692872
- Sponsor's protocol ID
- 160065
- Other IDs
- 16-I-0065
- Status last verified
- 13 Mar 2026
- First submitted
- 25 Feb 2016
- Last updated
- 24 Apr 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: The IPD is not required for non-interventional, non-clinical trials.
Publications
Piel FB, Weatherall DJ. The alpha-thalassemias. N Engl J Med. 2014 Nov 13;371(20):1908-16. doi: 10.1056/NEJMra1404415.
PubMed 25390741Embury 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.
PubMed 6172710Straub 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.
PubMed 23123858
Study at a glance
From the registry record, last updated by the sponsor on 24 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Screening for Alpha Globin Deletions
- ClinicalTrials.gov ID
- NCT02692872
- Acronym / sponsor ID
- 160065
- Conditions
- Alpha Thalassemia
- Keywords
- Alpha Thalassemia, Double Deletion
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 367 participants (actual)
- Lead sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)US National Institutes of Health
- Study start
- 17 Apr 2017 (actual)
- Primary completion
- 31 Dec 2027 (estimated)
- Study completion
- 31 Dec 2027 (estimated)
- First posted
- 26 Feb 2016 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
Many of the complications of sickle cell disease, such as stroke, kidney damage, skin ulceration,pulmonary hypertension, and cardiac hypertrophy are prevented, delayed or reduced by inheritance of one of more deletions of the alpha globin genes. Our long-term research goal is to understand how deletions of alpha globin protect against the vascular complications of sickle cell disease.
Deletions of alpha globin are common and found in approximately 5% of the world s population.They are especially common among Africans and people of African ancestry, as well as in India, China, and the Pacific Islands, where prevalence can range from 5 - 80%. A single deletion has little effect on the red blood cell, but two deletions can give rise to alpha thalassemia, a mild microcytic anemia. Patients with sickle cell disease who have two alpha globin deletions tend to have a higher hemoglobin level, smaller red blood cells, and a lower fraction of circulating reticulocytes - consistent with decreased hemolysis and red cell turnover. They also have a lower number of dense or irreversibly sickled cells. These changes might explain why alpha globin deletions reduce the severity of sickle cell disease.
However, a novel function for alpha globin as a regulator of endothelial nitric oxide (NO) has recently been identified that raises new questions about how alpha globin deletions protect against sickle cell disease. We hypothesize that individuals with two alpha globin deletions will have decreased gene expression and protein levels of alpha globin in vascular endothelium, permitting more NO to diffuse across the myoendothelial junction, compared to individuals who have all four alpha globin genes intact. In this protocol we will screen healthy volunteers to identify those with two alpha globin deletions; these individuals as well as matched controls will be referred to a separate protocol to undergo studies of vascular endothelial function.
Study design
- Observational model
- Other
- Time perspective
- Other
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| 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. |
Who may qualify
- Ages
- 18 to 39 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult
- 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.
Key inclusion criteria (4 listed)
- Age 18 - 39
- Self-report of African ancestry
- Willingness and legal ability to give and sign informed study consent
Key exclusion criteria (1 listed)
- There are no exclusion criteria for this screening protocol
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Identify Presence of Double Alpha Globin Deletions in Healthy Volunteers.
Time frame: Ongoing
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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 24 Apr 2026.
- Background: PubMed 25390741Piel FB, Weatherall DJ. The alpha-thalassemias. N Engl J Med. 2014 Nov 13;371(20):1908-16. doi: 10.1056/NEJMra1404415.
- Background: PubMed 6172710Embury 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.
- Background: PubMed 23123858Straub 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.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
- Individual participant dataSharing planned: No. The IPD is not required for non-interventional, non-clinical trials.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Amy P Ruhl, M.D. principal investigator
National Institute of Allergy and Infectious Diseases (NIAID)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Alpha Thalassemia, run by National Institute of Allergy and Infectious Diseases (NIAID) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 24 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Identify Presence of Double Alpha Globin Deletions in Healthy Volunteers. (time frame: Ongoing). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02692872, which also lists 3 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 24 Apr 2026.