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Anemia

Diagnosis laboratorium Anemia

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Anemia

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  1. Diagnosis Laboratorium Anemia danPermasalahannya Agus Susanto Kosasih LaboratoriumPatologiKlinik RS KankerDharmais

  2. Definition of anaemia • Anaemia is defined as a reduction in the haemoglobin concentration of the blood • This results in a decreased oxygen carrying capacity

  3. PATHOLOGY, SYMPTOMS, AND SIGNS OF ANEMIA

  4. Normal values for peripheral blood Female Male Erythrocytes(per µl) 4.8±0.6x106 5.4±0.8x106 Hemoglobin (g/dl)14 ± 216 ±2 Hematocrit(%)42 ±5 47 ±5 Reticulocytes(%) 11 ___________________________________________ Mean corpuscular volume (MCV; µm3) 82-92 Mean corpuscular hemoglobin(MCH; pg) 27-32 Mean corpuscular hemoglobin concentration (MCHC; %) 32-36

  5. Etiologic classification of anemias (1) I. Impaired red cell production A. Disturbance of proliferation and differentiation of stem cells ( aplastic anemia, pure red cell aplasia) B. Disurbance of proliferation and maturation of erythrocytes: 1.Defective DNA synthesis (megaloblasticanemias) 2.Defective Hb synthesis: a/. Deficient heme synthesis (iron deficiency) b/. Deficient globin synthesis (thalassemia) 3. Unknown or multiple mechanisms (anemia of chronic disease, anemia of marrow replacement)

  6. Etiologic classification of anemias (2) II.Increased rate of destruction (hemolyticanemias) A. Intrinsic abnormalities Hereditary 1. Red cell membrane defects (hereditary spherocytosis, hereditaryeliptocytosis) 2. Red cell enzyme deficiencies a/. Glycolytic enzymes: pyruvate kinase, hexokinase b/. Enzymes of hexose monophosphate shunt: G-6PD, glutathione synthetase 3. Disorders of globin synthesis a/. Deficient globin synthesis (thalassemia) b/. Structurally abnormal globin synthesis (sickle cell anemia, unstable hemoglobins) Acquired 1. Membrane defect: paroxysmal nocturnal hemoglobinuria

  7. Etiologic classification of anemias (3) B. Extrinsic abnormalities 1. Antibody mediated a/. Autoantibodies (idiopathic, drug-associated, SLE, malignancies) b/. Isohemagglutinins (transfusion reactions, erythroblastosisfetalis) 2. Mechanical trauma of RBC a/. Microangiopathichemolyticanemias (thrombotic thrombocytopenic purpura, DIC) b/. Cardiac traumatic hemolyticanemia 3. Chemicals and microorganisms 4. Sequestration in mononuclear phagocytic system - hypersplenism

  8. Classification of Anemia

  9. Classification of Anemia

  10. Morphologic classification of anemias Type MCVMCHC Common cause ________________________________________________________ Macrocytic anemiaincreasednormal Vitamin B12 deficiency Folic acid deficiency Microcytic anemia - hypochromicdecreaseddecreasedIron deficiency Thalassemia - normochromicdecreasednormalSpherocytosis or normal Normocytic anemianormalnormalAplastic anemia - normochromicChronic renal failure Some hemolyticanemia

  11. Classification of Anaemia: Microcytic Hypochromic • MCV <80fl • MCH <27pg • Iron deficiency

  12. Microcytic anaemiaFerritin >25ug/L • Thalassaemia • Sideroblasticanaemia (some cases) • Anaemia of chronic disease (some cases) • Lead poisoning

  13. Classification of Anaemia: Normocytic Normochromic • MCV 80-100fl • MCH >26pg • Often incidental finding in systemic disorders • May be first manifestation of a systemic disorder • Many haemolyticanaemias • Anaemia of chronic disease (some cases) • After acute blood loss • Bone marrow failure, e.g. Post-chemotherapy, infiltration by carcinoma etc

  14. Classification of Anaemia: Macrocytic • MCV >100fl • Megaloblastic: vitamin B12 or folate deficiency • Non-megaloblastic: alcohol, liver disease, myelodysplasia, aplastic anaemia

  15. Iron deficiency anaemia Assess for • Dietary Iron deficiency • Malabsorption- coeliac • Chronic blood loss • Gastrointestinal • Menorrhagia

  16. Iron deficiency anaemia

  17. THALASSEMIAS: Defects of Hb synthesis Hemoglobin molecule heme heme Thalassemia-: -globin chain synthesis  or () Thalassemia-: -globin chain synthesis  or ()

  18. Globin chain synthesis: developmental phases

  19. GEN PENYANDI SINTESIS RANTAI GLOBIN  DAN  2 2 1 Gen  & sejenis Kromosom 16  G A   Kromosom 11 Gen  & sejenis Hb Gower 1 (2 2) Hb Gower 2 (22) Hb Portland (22) Embrio Hemoglobins Masa Perkembangan HbF (22) Janin HbA2 HbA (2  2) (2  2) Dewasa

  20. Human Hemoglobins embryonic fetal adult Hb Gower 1 (22) Hb Gower 2 (22) Hb Portland 1 (22) Hb Portland 2 (22) Hb F (22) Hb A (22): 95-97% Hb A2 (22): 4% Hb F (22): <1% • Hb switches: 2 major • 2 months gestation: embryo to fetus • birth: fetal to adult

  21. Normal Hb F levels • information on age of patient is important: • interpretation of Hb levels • premature: delay in Hb switch (fetal to adult)

  22. How is Thalassemia Classified? Thalassemia •  •  •  •  •  •  • thalasemiahemoglobinopathies

  23. -globin gene (-thalassemia) -globin chains /- -globin chains/- Excess of -globin chains (fetus) -globin chains (adult) Excess of -globin chains Genotypes to phenotypes of thalassemia Molecular defects (mutations) -globin gene (-thalassemia)

  24. Pathophysiology of thalassemia syndromes globin chain imbalance (excess  or  chains) excess chains precipitate in RBC RBC damage • ineffective erythropoiesis • peripheral hemolysis anemia

  25. Clinical aspects: thalassemia syndromes

  26. Beta-thal syndromes • trait: + or0 • thalassemia-intermedia • + / + • + / 0 • thalassemia-major: 0 / 0

  27. Identification of classical beta-thalassemia trait in an adult hallmark for classical beta-thalassaemia trait: raised Hb A2

  28. information on age of patient is important: full-term or premature Hb subtypes in normal newborn F(22): 70-90% A(22): 10-30% *A2(22): 0% (not measurable by HPLC) Hb subtypes in the newborn

  29.          THALASSEMIA-β HOMOZIGOT βo HETEROZIGOT HOMOZIGOT β+ danβ+  • Anemia ringansampaiberat • Hatidanlimpa normal atau • membesar • MasihmempunyaiHbA • HbFdari 10 s/d > 90% • Asimptomatik • Anemia ringan s/d berat • Hb 8-15 g/dL (rata-rata 12) • MCV < 80 fl • HbA2 > 3.5% • HbF ≥ 1% • Anemia beratsejakusia < 1 tahun • Perlutransfusirutin • Hatidanlimpamembesar • MCV < 70 fl • JenisHbhanya HbA2 and HbF • HbF > 90%

  30. Clinical severity of -thal syndrome: related to number of functional -globin genes

  31. 0 or -thal 1 trait • H inclusion test positive: • 1 RBC cell per 5000 or 10,000 RBC • may be negative • cannot be done in newborn `golf ball inclusions’

  32. Presumptive identification of -thalassemia in newborns •  anemia Hb • MCV<105 fl • MCH<27pg • Hb Bart’s >5%

  33. Levels of Hb Bart’s (4) in -thalassemia in newborns Pootrakul et al 1975

  34. BioRad Variant HPLC: -thal short program

  35. FENOTIP THALASSEMIA -  (CARRIER) Normal / -/- - /             Normal 25-27pg normal or ↓ ↓ atau (-) N/anemia ringan < 25 pg normal or ↓ ↓ atau (-) Normal MCH : 27-31 pg HbA2 : 2.5-3.5% HbF : <1%

  36. - -/- --/--         4=HbBart 4=HbH       Adult Fetus FENOTIP THALASSEMIA -  (PENDERITA) Normal /  MCH : < 26-32 pg HbA2 : 2.5-3.5% HbF : <1% • HbH disease • mild to severe anemia • Kematian janin • (28-32 minggu) • Hydrops fetalis

  37. Normal fetus AFFECTED HbBart HbF HbH HbA HbBart’ hydrops fetalis Hb variant analysis 32 weeks gestational age

  38. Diagnosis Thalassemia • Anamnesis/pedigree • Pemeriksaan Fisik • Pemeriksaan laboratorium

  39. Anamnesis/Pedigree • Pucat lama (kronik) • Riwayat keluarga dengan penyakit serupa • Ras • Anorexia • Gangguan Pertumbuhan

  40. Probability Thalassemia Orang Tua Thalassemia Trait Orang Tua Thalassemia Trait Normal Thalassemia Trait Thalassemia Mayor

  41. Probability Thalassemia Orang Tua Thalassemia Mayor Orang Tua Thalassemia Trait Thalassemia Trait Thalassemia Mayor Thalassemia Trait Thalassemia Mayor

  42. Probability Thalassemia Orang Tua Thalassemia Trait Orang Tua Normal Normal Thalassemia Trait

  43. Pemeriksaan fisik • Sangat bervariasi (ringanberat) • Pucat • Gizi kurang • Pertumbuhan kurang/lambat • Facies mongoloid/ Cooley • Hepar dan limpa membesar • Fraktura patologis

  44. Thalassemia Mayor Cooley’s face Hairy Skull

  45. Pemeriksaan laboratorium (1) Darah perifer: - Hb rendah / normal - MCV <80fl dan MCH <27pg, - Retikulosit agak meningkat - Jumlah leukosit normal - Hitung jenis normal

  46. PemeriksaanHematologi • MCV : ukuraneritrositdibandingkandenganintilimfositkecil (Normal) • MCH : warnaeritrositatau content dari hemoglobin • RDW : perbedaanukuraneritrosit. semakinbesarvariasieritrosit semakinbesar RDW

  47. PemeriksaanHematologi • RDW-SD: mengukurlebarkurva. Bilakurvamakinlebarmakan RDW SD semakinlebar • Nilai Normal : • perempuan: 36.4 – 46.3fL • Laki-laki: 35.1 – 43.9fL • RDW-CV: dihitungdengan formula: RDW-CV = 1SD/MCV x 100 % 1SD merupakanvariasieritrositsekitar mean ukuraneritrosit • Nilai Normal : • perempuan: 11.7 – 14.4 % • Laki-laki: 11.6 – 14.4 %

  48. Messwerte Messwerte 5.97 x1012/L 12.7g/dl 41.1% 68.8fl 21.3pg 30.9g/dl 14.7% – – – + RBC HGB HCT MCV MCH MCHC RDW-CV + – – – RBC HGB HCT MCV MCH MCHC RDW-CV 4.48 x1012/L 8.8g/dl 29.3% 65.4fl 19.6pg 30.0g/dl 18.2% Messwerte PLT PDW MPV P-LCR 235 x109/L 11.7fl 9.4fl 21.7% PLT PDW MPV P-LCR 391 x109/L 12.0fl 10.3fl 27.3% (x 1000) (x 1000) Anemia Suspected Thalassemia Iron Deficiency Anemia <RBC-Histogram> Measurement Data Measurement Data <RBC-Histogram> <PLT-Histogram> <PLT-Histogram> Measurement Data Measurement Data

  49. RBC-Histogramm Messwerte RBC-Histogramm Messwerte 2.95 x1012/L 9.9g/dl 28.7% 97.3fl 33.6pg 34.5g/dl 26.4% + RBC HGB HCT MCV MCH MCHC RDW + RBC HGB HCT MCV MCH MCHC RDW 4.15 x1012/L 14.0g/dl 40.8% 98.3fl 33.7pg 34.3g/dl 22.7% Messwerte PLT PDW MPV P-LCR 328 x109/L 12.4fl 10.2fl 26.5% PLT PDW MPV P-LCR PL* DW PL PL 98 x109/L ---.-fl ---.-fl -.---% (x 1000) (x 1000) Anisocytosis Case 1 Case 2 Measurement Data <RBC-Histogram> Measurement Data <RBC-Histogram> <PLT-Histogram> Measurement Data <PLT-Histogram> Measurement Data

  50. Pemeriksaan laboratorium (2) Sedian hapus darah tepi : Khas, gambaran hemolitik kronik - Mikrositik Hipokrom - Anisositosis - Poikilositosis - Sel target - Fragmentosit - Eritrosit berinti (berat)

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