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| Name | Class |
|---|---|
| New York Blood Center | OTHER |
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The proposed study will determine whether G6PD-deficient RBCs store differently than normal RBCs under standard blood banking conditions. The investigators plan to screen a large number of healthy male volunteers for G6PD deficiency in order to identify 10 G6PD deficient and 30 matched normal individuals using a blood sample obtained from a finger-stick. The identified individuals will then be asked to donate a unit of blood that will be stored for up to 42 days and various tests will be performed on these units during storage. At 6 weeks of storage a portion of the unit will be radioactively labeled and re-infused into the volunteer. Blood samples will be drawn before, during, and after the infusion to measure how well or poorly the red blood cells survive after transfusion.
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzyme deficiency, affecting approximately 400 million people world-wide. It manifests as red blood cell (RBC) destruction in response to oxidative stress, which can be precipitated by infection, and by the ingestion of certain medications and foods. The prevalence of G6PD deficiency varies among populations and is most commonly found in individuals from sub-Saharan Africa, the Mediterranean region, and south-east Asia. Although in most studies G6PD-deficient individuals have normal RBC survival at steady-state, this may vary based upon the G6PD variant present, and some individuals may have shortened RBC survival. While it is not routine practice to screen blood donors for G6PD deficiency, G6PD deficient donor RBCs may store more poorly than normal RBCs. In addition, the transfusion of stored G6PD-deficient RBCs may result in decreased RBC survival after transfusion compared to RBCs from normal donors.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| G6PD-normal | Donated blood from G6PD-normal subjects |
| |
| G6PD-deficient | Donated blood from G6PD-deficient subjects |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Sodium Chromate Cr51 | Drug | Sodium Chromate Cr 51 will be used to perform a red blood cell recovered study 24 hours post-transfusion. |
|
| Measure | Description | Time Frame |
|---|---|---|
| 24-hour post-transfusion red blood cell recovery | Percentage of radio-labeled red blood cells remaining 24 hours after infusion | 24 hours |
| Measure | Description | Time Frame |
|---|---|---|
| In vitro hemolysis rate | Percent hemolysis in the red blood cell unit in vitro | 42 days |
| Measure | Description | Time Frame |
|---|---|---|
| Number of samples with metabolites detected | Metabolomics analysis: metabolites that are representative of major metabolic pathways will be measured in the red blood cells or supernatant during storage. Quantitative measurements will be performed using high performance liquid chromatography and mass spectrometry and the data obtained will be analyzed to detect correlations with the primary outcome measure of 24-hour post-transfusion red blood cell recovery. |
Inclusion Criteria:
Exclusion Criteria:
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Healthy male volunteers will be screened for G6PD deficiency in order to identify 10 G6PD deficient and 30 matched normal individuals using a blood sample obtained from a finger-stick.
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| Name | Affiliation | Role |
|---|---|---|
| Richard O Francis, MD, PhD | Columbia University | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Columbia University Irving Medical Center | New York | New York | 10032 | United States | ||
| New York Blood Center |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 31961822 | Derived | Francis RO, D'Alessandro A, Eisenberger A, Soffing M, Yeh R, Coronel E, Sheikh A, Rapido F, La Carpia F, Reisz JA, Gehrke S, Nemkov T, Thomas T, Schwartz J, Divgi C, Kessler D, Shaz BH, Ginzburg Y, Zimring JC, Spitalnik SL, Hod EA. Donor glucose-6-phosphate dehydrogenase deficiency decreases blood quality for transfusion. J Clin Invest. 2020 May 1;130(5):2270-2285. doi: 10.1172/JCI133530. |
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We will share all individual study data results upon request once the study is published.
upon request once the study is published
email study PI to request data
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| ID | Term |
|---|---|
| D005955 | Glucosephosphate Dehydrogenase Deficiency |
| ID | Term |
|---|---|
| D000745 | Anemia, Hemolytic, Congenital |
| D000743 | Anemia, Hemolytic |
| D000740 | Anemia |
| D006402 | Hematologic Diseases |
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| ID | Term |
|---|---|
| C028982 | sodium chromate(VI) |
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Blood will be collected to conduct a complete blood count (CBC), testing for the presence of abnormal hemoglobin types (hemoglobinopathy screen), blood type and antibody screen, and confirmation of G6PD deficiency by measuring enzyme activity. In addition, DNA will be extracted and preserved for genetic testing for G6PD deficiency.
|
| Pre-donation to 42 days after donation |
| New York |
| New York |
| 10065 |
| United States |
| D006425 |
| Hemic and Lymphatic Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D002239 | Carbohydrate Metabolism, Inborn Errors |
| D008661 | Metabolism, Inborn Errors |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |