Laboratory Investigations

1. Anemia: Normocytic or macrocytic normochromic.

2. Reticulocytopenia: Absolute count more reliable.

3. Leukopenia: Granulocytopenia often less than 1500/mm3.

4. Thrombocytopenia: Platelets often less than 30,000/mm3.

5. Fetal hemoglobin: May be slightly to moderately elevated.

6. Bone marrow:

a. Marked depression or absence of hematopoietic cells and replacement by fatty tissue-containing reticulum cells, lymphocytes, plasma cells, and usually tissue mast cells.

b. Megaloblastic changes and other features indicative of dyserythropoiesis frequently seen in the erythroid precursors present.

c. Bone marrow biopsy essential for diagnosis to exclude the possibility of poor aspiration technique or poor bone marrow sampling; additionally, rules out granulomas, myelofibrosis, or leukemia.

d. Chromosomal analysis normal; rules out Fanconi anemia and myelodys-plastic syndromes.

e. Bone marrow cultures for infectious agent and/or DNA; antigen-based evaluation for infectious agent when indicated.

7. Chromosome breakage assay: Performed on peripheral blood to rule out Fanconi anemia.

8. Flow cytometry (CD55/59): Performed to exclude paroxysmal nocturnal hemo-globinuria.

9. Physical examination, appropriate laboratory and imaging studies and if warranted mutation analysis: Performed to rule out other inherited bone marrow failure syndrome (DC, DBA, SDS, CAT)

10. Liver function chemistries: Performed to exclude hepatitis.

11. Renal function chemistries: Performed to exclude renal disease.

12. Viral serology testing: Hepatitis A, B, and C antibody panel; Epstein-Barr virus antibody panel; parvovirus B19 and IgG and IgM antibodies; varicella antibody titer; cytomegalovirus antibody titer, etc.

13. Quantitative immunoglobulins, C3, C4, and complement.

14. Autoimmune disease evaluation: Antinuclear antibody (ANA), total hemolytic complement (CH50), Coombs' test.

15. HLA typing: Patient and family done at the time of diagnosis of severe aplastic anemia to ensure a timely transplant.

16. Blood group typing: On the patient.

17. Clotting profile: Prothrombin time (PT), activated partial thromboplastin time (APTT), fibrinogen.

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