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Diagnosis of aplastic anemia
Alexey Portnov, medical expert
Last reviewed: 23.04.2024
Last reviewed: 23.04.2024
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Plan for examination of patients with aplastic anemia
- Clinical analysis of blood, with the determination of the number of reticulocytes and DC.
- Hematocrit.
- Blood type and Rh factor.
- Myelograms from 3 anatomically different points and trepanobiopsy, determination of colony-forming properties and cytogenetic analysis in hereditary variants of the disease.
- Immunological examination: determination of antibodies to erythrocytes, platelets, leukocytes, determination of immunoglobulins, typing according to the HLA system, RBTL.
- Biochemical blood test with determination of ALT, ACT, bilirubin, total protein, proteinogram, urea, creatinine, sugar, haptoglobin, fetal hemoglobin.
- Clinical examination: urinalysis, coprogram, sowing feces, smears from the pharynx and nose, examination of the ENT doctor, dentist, ECG, chest x-ray (to exclude thymoma, hemosiderosis), bones of the skull, wrist.
- Transfusiologic anamnesis: the number and frequency of blood transfusions, including from relatives; posttransfusion reactions.
- According to indications: ultrasound of internal organs, intravenous urography, coagulogram, "iron-complex" of blood, functional tests of kidneys, etc.
- In patients with Fanconi anemia:
- to confirm the diagnosis - a test with diepoxybutane or mitolysin
- in patients with established diagnosis
- assessment of endocrine status
- evaluation of sexual development
- test for glucose tolerance
- level of growth hormone
- thyroid hormone levels
- X-ray examination
- elimination of malformations of the osseous system
- exclusion of anomalies of the urogenital tract
- functional hepatic assays
- functional renal tests
- Heart ultrasound
- audiogram
- examination of family members of the patient
- The exclusion of Fanconi anemia from other relatives
- Survey of relatives to identify a potential bone marrow donor
- cytogenetic examination of relatives and patients
- complementarity study of the patient's genes
- Periodically examining the bone marrow to exclude transformation into myelodysplastic syndrome or acute leukemia.