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Aplastic anaemia checked
This document summarizes laboratory diagnosis of aplastic anemia. It describes how aplastic anemia is defined by pancytopenia, hypocellular bone marrow, and absence of abnormal cells. Laboratory evaluation includes complete blood count, reticulocyte count, bone marrow examination, and tests to identify causes. Bone marrow aspiration looks at cellularity and morphology while trephine biopsy assesses cellularity, infiltrative disease, fibrosis, and granulomas. Inherited forms of aplastic anemia include Fanconi anemia, dyskeratosis congenita, and Shwachman-Diamond syndrome. Laboratory diagnosis of these inherited types involves identifying characteristic features and genetic testing.
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Aplastic anaemia checked
- 1. APLASTIC ANEMIA & LABORATORYDIAGNOSIS GUIDED BY:- RESP. MR. S.K BOSE SIR RESP. MR. ISHWAR SIR PRESENTED BY:- BALRAM KRISHAN B.SC MLT PART III
- 2. History of Aplasticanaemia • Paul Ehrlich (1854 -1915) described the first case of aplastic anaemia in a pregnant woman who died of marrow failure in1888. • The term “aplastic anaemia” first used by Anatole Chauffard in 1904. 2
- 3. Epidemiology • incidence -2/1 million people •Acquired AA-First peak 15-25 years(maximum) & ≥60 years- second peak. •Inherited AA- first decade of life, associated with physical anomalies. • Aplastic anemia is defined by- •Pancytopenia. •Hypocellular bone marrow where normal haemopoietic cells are replaced by fat. •Absence of abnormal or malignant cells .
- 4. 1. Acquired aplasticanaemia- 80%. 2. Inherited aplastic anaemia- 20%. CATEGORIES
- 5. Aplastic Anemia •Congenital/inherited (20%) •Patients usually have dysmorphic features or physical stigmata. Occasionally, marrow failure may be the initial presenting feature. • Fanconi anemia • Dyskeratosis congenita • Diamond blackfan anemia Acquired: (80%) • Drugs - Cytotoxic drugs e.g. Vincristine, andriamycin - Antibiotics e.g. chloramphenicol, cotrimoxazole, nitrofurantioin. - - Anti-inflammatory e.g. Phenylbutazone, oxyphenbutazone, diclofenac - Antithyroid drugs e.g. carbimazole Chemicals e.g. Benzene - 2- 6 months usually between exposure and the development of aplastic anemia. 5
- 6. •Viruses- EBV, HepatitisNon-A,B,C,D,E,G viruses, HIV and Parvo virus B19. •Autoimmune/ Connective tissue disorders- Eosinophilic fasciitis, SLE. •Iatrogenic- Radiation, Cytotoxic therapy.
- 7. PATHOGENESIS • Aplastic anemiais due to stem cell defect and the stem cells fail to proliferate and differentiate. • Mechanisms : 1. AUTOIMMUNITY • Cytotoxic T cells produce interferon γ & TNFα inhibits FAS on CD34 cell Hematopoeisis apoptosis of progenitor Stem cells undergo apopotosis and hence stem cells gradually diminish in marrow resulting in aplasia of marrow. 2. STEM CELL • Marked reduction in number
- 8. CLINICAL FEATURES Clinical featuresof patients are due to thrombocytopenia, anemia, and neutropenia. •Pallor, weakness, fatigue, dyspnea •petechiae, bruising, epistaxis(nose bleeding) , unexpected bleeding at other sites. •Fever, chills, pharyngitis. •Infection because of neutropenia
- 9. LAB DIAGNOSIS A. Fullblood count – i. Hemoglobin ≤ 10gm/dl ii. TLC ↓ iii. Platelet count↓ Peripheral blood smear – RBC -normocytic/ normochromic • no abnormal cells/blasts. • In initial stages lymphocyte count is normal but as the disrease progresses lymophocyte count also falls.
- 10. 2. Reticulocyte count(decrease) • Normal value - 0.5-2.5% (i). Manual count • New methylene blue or Brilliant crystal blue (ii) automated counting 3.Corrected reticulocyte count ⁼Retic(%)× {PCV of patient (%)÷45}
- 11. 2. BONE MARROWEXAMINATION Aspirate – 1. Morphology- 2. Cytogenetics &Immunophenotyping to differentiate MDS 3. Iron staining. 4. DNA/antigen-based viral tests Trephine biopsy • Assess cellularity • Infiltrative ,malignant disease or storage disease • Fibrosis or granuloma.
- 13. 3. PNH workup- Ham’s test and Sensitive multi-color flow- cytometry. 4. PCR for Hepatitis viruses and Parvovirus B19. 5 Liver function tests. 6. Auto-antibody screen. 7. Vertebral MRI- Uniformly fatty in AA (Myelodysplastic syndromes)
- 14. Laboratory Evaluation forAplastic Anemia Complete blood cell count and differential Define severity of aplasia 1. Morphology Define abnormal cells (e.g., blasts or storage cells) Vitamin B 12 deficiency 2. Reticulocyte count Define severity Differentiate production vs. destruction Bone marrow biopsy To assess cellularity
- 15. Features AA HypoplasticMDS • • Cytopenia Present Present • BM 1. cellularity Aplastic or hypo cellular Hypo cellular 2. Erythropoiesis Reduced Present 3. Myelopoiesis decreased Present 4. Megakaryopoiesis Decreased or absent Present 5. Dysplasia Normal Possible 6. Blasts Absent Variable 7. PNH clone Frequent Unusual
- 16. AA and PNH •≥50% patients with aplastic anemia may have a PNH cell population. •PNH – defect in glycosylphosphatidylinositol (GPI)- linked proteins (CD 55 &59) •Due to PIG-A mutation •The probability of patients with aplastic anemia developing PNH is 10 to 20% •Diagnosis - Flow cytometry •Ham’s test
- 17. Inherited aplastic anaemia 1.Fanconi anaemia 2. Dyskeratosis Congenita 3. Shwachman-Diamond syndrome 4. Congenital Amegakaryocytic Thrombocytopenia
- 18. FANCONI ANAEMIA • mostcommon • Autosomal recessive. PATHOGENESIS • Cells from FA show chromosomal breakage and hypersensitivity to the effects diepoxybutane (DEB) and mitomycin-C (MMC). •
- 19. Clinical features •Growth retardation •Shortstature •Skeletal anomalies- Absent, misshapen, or supernumerary thumbs, dysplastic radii, hip and vertebral abnormalities •heart defects, eye abnormalities,fused kidneys, •mental retardation.
- 20. LAB. DIAGNOSIS • chromatidbreaks seen in myeloid cells, lymphocytes. • This chromosome damage is intensified after exposure to DNA cross-linking agents such as mitomycin C or diepoxybutane.
- 21. Dyskeratosis congenita • Cutaneousand mucous membrane abnormalities. • Progressive marrow insufficiency. • Predisposition to malignant transformation. • Inheritance- X- linked recessive.
- 22. Diagnosis • Phenotypic findings. •Cytopenias. • Genetic analysis for telomerase complex gene mutations. • Shortened telomere length in leukocytes also can be assessed by flow cytometric fluorescence in situ hybridization studies.
- 23. Shwachman Diamond syndrome •Once in every 100,000 births. • Exocrine pancreatic insufficiency with secondary steatorrhea. • Blood cell deficiencies. • Skeletal abnormalities.
- 24. Some imp pointsregarding lab • ESR is increased in case of pancytopenia. • Roulex formation is also occur because of high sedimentation rate . • Toxic granules occasionally occur in aplastic anaemia • Bone marrow failure resulting in aplastic anaemia may manifest first and them may develop PNH also because of being stem cell disorder . 24
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