Table 1. Donor and Specimen Screening.
Screening parameters are listed.
| DONOR & SPECIMEN SCREENING | ||
|---|---|---|
| Universal Screening (For All Normal Control & BMF Participants) | NORM CTL | BMF PTS |
| Demographics including date of birth | X | X |
| History and Physical Exam | ||
| CBC/Differential/Reticulocyte count | ||
| Serum iron/total iron binding capacity/ferritin | ||
| RBC folate/B12 serology | ||
| Pathogen Screening (HIV/HTLV/HBV/HCV/Chagas/Syphillis) | ||
| Standard of Care, General (to establish diagnosis) | NORM CTL | BMF PTS |
|---|---|---|
| Symptoms and Treatment | NA | X |
| Comprehensive metabolic panel | ||
| Cytogenetics if bone marrow aspiration if done. | ||
| Bone marrow biopsy/aspiration* | ||
| HLA TYPING (KIR-Ligand) if not already known | ||
| Quality of life Questionnaire |
| Standard of Care, Disease Specific (to establish diagnosis) | NORM CTL | AA | LGL | MDS | PNH |
|---|---|---|---|---|---|
| Factor V Leiden, Protein S, Protein C, Prothrombin 2010A | NA | X | |||
| PNH clones by flow cytometry (CD55 & CD59 on granulocytes) | X | X | |||
| DEB testing (Fanconianaemia) in patients < 21 years old | X | ||||
| TCR-gamma rearrangement | X | X | |||
| Serum Protein electrophoresis | X | ||||
| Rheumatoid factor | X | ||||
| Low grade lymphoma panel | X | ||||
| Bone marrow flow cytometry of blast gate** | X | ||||
| Parvovirus B-19 IgM and IgG serologies | |||||
| Chest x-ray; CT scan if chest x-ray inconclusive |
*
: Biopsy/aspiration was performed only if clinically indicated.
**
: Flow cytometry was done only if bone marrow cells were already collected.
NORM CTL: normal control donors/specimens, BMF PTS: Bone marrow failure participants, NA, not applicable, AA: aplastic anemia, LGL: LGL leukemia, MDS: myelodysplastic syndrome, PNH: paroxysmal nocturnal haemoglobinuria