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312    SECTION II  Diseases of Organ Systems








                                                                                Microcytes




                                                                                Red cells
                                                                                showing severe
                                                                                hypochromia


                                                                                Fragmented RBC
                                                                                Nucleated red
                                                                                cell




                     FIGURE 12.4.  Leishman-stained PBS of b-thalassaemia major showing severe microcytic hy-
                     pochromic anaemia with marked anisopoikilocytosis. There is presence of target cells, tear-
                     drop cells, fragmented red cells and nucleated red cells.


                     Peripheral Blood Smear (Fig. 12.4)
                     •  Severe microcytic hypochromic anaemia with marked anisopoikilocytosis
                     •  Basophilic stippling, target cells, poikilocytes, fragmented red cells, pencil cells, cells
                       with Cabot rings and numerous nucleated red cells.
                     Bone Marrow
                     •  Normoblastic erythroid hyperplasia
                     •  Ineffective erythropoiesis
                     •  Predominance of intermediate and late normoblasts (smaller in size than normal)
                     •  Increased reticuloendothelial iron with siderotic granules in the cytoplasm of normoblasts
                     Hb Electrophoresis
                     •  HbA: Absent/markedly decreased
                     •  HbA 2 : Normal/decreased/increased
                     •  HbF: Markedly increased (10–98%)
                     Other Findings
                     •  Increased unconjugated bilirubin and urinary urobilinogen
                     •  Markedly increased serum iron
                     •  Increased percentage transferrin saturation (. 70%)
                     •  Markedly increased serum ferritin (300–3000 mg/dL)
                     •  Decreased osmotic fragility
                     Laboratory Diagnosis of b-Thalassaemia Trait

                     General Blood Parameters
                     •  Hb and haematocrit mildly decreased with increase in the reticulocyte count.
                     •  MCV, MCH and MCHC decreased out of proportion to degree of anaemia.
                     •  RBC count higher as compared to iron deficiency anaemia for the same haemoglobin value.
                     Peripheral Blood Smear
                     •  Hypochromic microcytic RBCs with mild anisopoikilocytosis
                     •  Target cells, basophilic stippling, poikilocytes, pencil cells, cells with Cabot rings and
                       nucleated red cells may be present but are fewer as compared to b-thalassaemia major.



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