Diagnosis of aplastic anemia

Examination plan for patients with aplastic anemia

1. Clinical blood test, with determination of the number of reticulocytes and DC.
2. Hematocrit.
3. Blood type and Rh factor.
4. Myelograms from 3 anatomically different points and trephine biopsy, determination of colony-forming properties and cytogenetic analysis in hereditary variants of the disease.
5. Immunological examination: determination of antibodies to erythrocytes, platelets, leukocytes, determination of immunoglobulins, typing according to the HLA system, RBTL.
6. Biochemical blood test with determination of ALT, AST, bilirubin, total protein, proteinogram, urea, creatinine, sugar, haptoglobin, fetal hemoglobin.
7. General clinical examination: urine analysis, coprogram, stool culture, throat and nose swabs, examination by an ENT doctor, dentist, ECG, chest X-ray (to rule out thymoma, hemosiderosis), skull bones, wrist.
8. Transfusion history: number and frequency of blood transfusions, including from relatives; post-transfusion reactions.
9. According to indications: ultrasound of internal organs, intravenous urography, coagulogram, blood “iron complex”, renal function tests, etc.
10. In patients with Fanconi anemia:
    • to confirm the diagnosis - a test with diepoxybutane or mitolysin
    • in patients with an established diagnosis
    1. endocrine status assessment
       • assessment of sexual development
       • glucose tolerance test
       • somatotropin level
       • thyroid hormone levels
    2. X-ray examination
       • exclusion of developmental defects of the skeletal system
       • exclusion of urogenital tract anomalies
    3. liver function tests
    4. renal function tests
    5. Ultrasound of the heart
    6. audiogram
    7. examination of the patient's family members
       • exclusion of Fanconi anemia in other relatives
       • screening of relatives to identify a potential bone marrow donor
       • cytogenetic examination of relatives and the patient
       • study of the complementarity of the patient's genes
    8. periodic examination of bone marrow to exclude transformation into myelodysplastic syndrome or acute leukemia.

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