Collection of Human Biospecimens for Basic and Clinical Research Into Globin Variants

• PARTICIPANT INCLUSION CRITERIA:

1. Aged 18-70 years.

2. Able to provide informed consent.

3. Willing to allow biological samples to be stored for future research.

4. Willing to provide one or more of the following tissues: saliva, urine, blood,blood waste products, adipose tissue, bronchial brushing, and/or BAL samples.

5. Willing to allow genetic testing on collected biological samples.

PARTICIPANT EXCLUSION CRITERIA:

• Exclusion Criteria for All Participants

The following exclusion criteria apply to all participants who will provide any of the following samples in-person at the NIH CC: saliva, urine, blood, blood waste products, adipose tissue, bronchial brushing, and/or BAL samples:

1. Pregnancy.

2. Positive testing for hepatitis B virus, hepatitis C virus, or HIV (as determined byserum screening tests or relevant viral quantitative studies.)

3. Any condition that requires active medical intervention or monitoring to avertserious danger to the individual s health or wellbeing.

4. Any condition that, in the opinion of the PI, contraindicates participation in thisstudy.

• Additional Exclusion Criteria for Individuals Giving Blood for Research

1. Hemoglobin < 10 g/dL for healthy female volunteers, < 12 g/dL for healthy malevolunteers, or < 6 g/dL for participants with sickle cell disease or other chronicanemias.

-Additional Exclusion Criteria for Adipose Tissue Biopsy

Individuals meeting any of the following criteria will be excluded from undergoing adipose tissue biopsy. If the participant no longer meets any of these criteria at a later time, then they will be allowed to undergo this procedure.

1. Currently taking anticoagulation medication.

2. Platelets < 100,000/microL.

3. History of keloid formation (or irregular fibrous tissue formed at the site of ascar or injury).

4. History of adverse reactions to lidocaine or other local anesthetics.

5. Any condition that, in the opinion of the PI, contraindicates this procedure.

Use of aspirin (or acetylsalicylic acid) and nonsteroidal anti-inflammatory drugs (NSAIDs) are permitted.

-Additional Exclusion Criteria for Bronchoscopy

Individuals meeting any of the following criteria will be excluded from undergoing bronchoscopy. If the participant no longer meets any of these criteria at a later time, then they will be allowed to undergo this procedure.

1. Prothrombin time (PT) > 1 second above the upper limit of normal (ULN) orinternational normalized ratio > 1.3.

2. Partial thromboplastin time (PTT) > 1 second above ULN.

3. Platelets < 150,000/microL.

4. Currently taking anticoagulation medication.

5. Use of aspirin within 2 weeks of the bronchoscopy or NSAIDs within 2 days of thebronchoscopy.

6. Diagnosis of a pulmonary disorder (eg, asthma, chronic bronchitis, cystic fibrosis,or bronchiectasis).

7. Respiratory tract infection within the last 4 weeks.

8. History of adverse reactions to systemic and/or local anesthetics that will be usedfor this procedure.

9. History of cigarette smoking within the past 3 months.

10. History of chronic opioid use.

11. History of drug or alcohol abuse.

12. Post-bronchodilator forced expiratory volume in 1 second (FEV1) < 40% of predictedor pre-bronchodilator FEV1 < 35% of predicted.

13. Active bronchospasm on physical examination.

14. History of lidocaine allergy.

15. Any condition that, in the opinion of the PI, contraindicates this procedure.

Co-enrollment guidelines: Participants may be co-enrolled in other studies. However, the PI must be notified of co-enrollment.