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RBC Disorders
 Dr.CSBR.Prasad, M.D.,
Clinical presentations
Fatigue
Pallor / Anemia
Spoon nails [Koilonychia]
Jaundice
Prolonged Neonatal jaundice
Hepatosplenomegaly
Hepatosplenomegaly
Delayed mile stones +organomegaly
Pigmented
Gall stones in
    young
  Persons
Ruddy facies
     of
polycytehmia
Some terms
• Anisocytosis
• Poikilocytosis
    –   Schistocytes
    –   Stomatocytes
    –   Elliptocytes
    –   Sickle cells
    –   Spherocytes
•   Polychromasia
•   Normocyte
•   Microcyte
•   Macrocyte
•   Rouleaux formation
•   RBC Agglutinates
Normocyte
Microcyte
Macrocyte
Spherocyte
Anisopoikilocytosis
Polychromatic cells
Hypochromia
RBC agglutinates
Rouleaux formation
The nucleated RBC in the center contains basophilic stippling of the cytoplasm. This suggests a
toxic injury to the bone marrow. Such stippling may also appear with severe megaloblastic
anemia.
Sickle cell anemia
RBC Indices
•   HGB
•   RBC count
•   HCT
•   MCV
•   MCH
•   MCHC
•   RDW
Here is data from a CBC in a person with iron deficiency anemia. Note the low
hemoglobin (HGB). Microcytosis is indicated by the low MCV (mean corpuscular
volume). Hypochromia correlates here with the low MCH (mean corpuscular
hemoglobin).
The CBC here shows a markedly increased MCV, typical for megaloblastic anemia. The
MCV can be mildly increased in persons recovering from blood loss or hemolytic
anemia, because the newly released RBC's, the reticulocytes, are increased in size over
normal RBC's, which decrease in size slightly with aging.
This CBC demonstrates findings suggestive of spherocytosis, a condition in which the
RBC's are small and round (rather than the normal biconcave appearance) with
increased hemoglobin content. This is indicated here by the increase MCHC (mean
corpuscular hemoglobin concentration). There is a rare condition known as hereditary
spherocytosis. Also, RBC's in the condition of autoimmune hemolytic anemia can also
appear similarly.
Anemias
Symptoms of Anemia
 •   Fatigue
 •   Shortness of breath
 •   Dizziness
 •   Pale or yellowish skin
 •   Swollen tongue that may appear dark red
 •   Weight loss
 •   Diarrhea
 •   Numbness or tingling in your hands and feet
 •   Muscle weakness
 •   Irritability
 •   Unsteady movements
 •   Mental confusion or forgetfulness
Anemia

             Definition:
Decrease in hemoglobin concentration
below the normal value for the age, sex
      and for the given individual
Classification of anemias
There are many classifications of anemia
• Based on underlying mechanisms
• Morphologic characteristics
Anemias due to BLOOD LOSS


 Mechanism            Specific Examples
 BLOOD LOSS
 Acute blood loss     Trauma
 Chronic blood loss   Gastrointestinal tract lesions,
                      gynecologic disturbances
INCREASED RED CELL DESTRUCTION (HEMOLYSIS)
Inherited genetic defects
 Red cell membrane disorders               Hereditary spherocytosis, hereditary elliptocytosis
 Enzyme deficiencies
 Hexose monophosphate shunt enzyme         G6PD deficiency, glutathione synthetase
deficiencies                               deficiency
 Glycolytic enzyme deficiencies            Pyruvate kinase deficiency, hexokinase deficiency
 Hemoglobin abnormalities
 Deficient globin synthesis                Thalassemia syndromes
 Structurally abnormal globins             Sickle cell disease, unstable hemoglobins
(hemoglobinopathies)
Acquired genetic defects
 Deficiency of phosphatidylinositol-linked  Paroxysmal nocturnal hemoglobinuria
glycoproteins
Antibody-mediated destruction               Hemolytic disease of the newborn (Rh disease),
Mechanical trauma                           transfusion reactions, drug-induced,
                                            autoimmune disorders
 Microangiopathic hemolytic anemias         Hemolytic uremic syndrome, disseminated
                                            intravascular coagulation, thrombotic
                                            thrombocytopenia purpura
 Cardiac traumatic hemolysis                Defective cardiac valves
 Repetitive physical trauma                 Bongo drumming, marathon running, karate
                                            chopping
Infections of red cells                     Malaria, babesiosis
Toxic or chemical injury                    Clostridial sepsis, snake venom, lead poisoning
Membrane lipid abnormalities                Abetalipoproteinemia, severe hepatocellular
                                            liver disease
Sequestration                               Hypersplenism
DECREASED RED CELL PRODUCTION
Inherited genetic defects
 Defects leading to stem cell      Fanconi anemia, telomerase defects
depletion
 Defects affecting erythroblast    Thalassemia syndromes
maturation
Nutritional deficiencies
 Deficiencies affecting DNA        B12 and folate deficiencies
synthesis
 Deficiencies affecting hemoglobin Iron deficiency anemia
synthesis
Erythropoietin deficiency          Renal failure, anemia of chronic
                                   disease
Immune-mediated injury of          Aplastic anemia, pure red cell
progenitors                        aplasia
Inflammation-mediated iron         Anemia of chronic disease
sequestration
Primary hematopoietic neoplasms Acute leukemia, myelodysplasia,
                                   myeloproliferative disorders (
                                   Chapter 13 )
Space-occupying marrow lesions     Metastatic neoplasms,
                                   granulomatous disease
Infections of red cell progenitors Parvovirus B19 infection
Unknown mechanisms                 Endocrine disorders, hepatocellular
                                   liver disase
END
Dr.CSBR.Prasad, M.D.,
Associate Professor of Pathology,
Sri Devaraj Urs Medical College,
         Kolar-563101,
           Karnataka,
             INDIA.
   csbrprasad@reiffmail.com

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Rbc disorders 1

  • 10. Delayed mile stones +organomegaly
  • 11. Pigmented Gall stones in young Persons
  • 12. Ruddy facies of polycytehmia
  • 13. Some terms • Anisocytosis • Poikilocytosis – Schistocytes – Stomatocytes – Elliptocytes – Sickle cells – Spherocytes • Polychromasia • Normocyte • Microcyte • Macrocyte • Rouleaux formation • RBC Agglutinates
  • 23. The nucleated RBC in the center contains basophilic stippling of the cytoplasm. This suggests a toxic injury to the bone marrow. Such stippling may also appear with severe megaloblastic anemia.
  • 25. RBC Indices • HGB • RBC count • HCT • MCV • MCH • MCHC • RDW
  • 26. Here is data from a CBC in a person with iron deficiency anemia. Note the low hemoglobin (HGB). Microcytosis is indicated by the low MCV (mean corpuscular volume). Hypochromia correlates here with the low MCH (mean corpuscular hemoglobin).
  • 27. The CBC here shows a markedly increased MCV, typical for megaloblastic anemia. The MCV can be mildly increased in persons recovering from blood loss or hemolytic anemia, because the newly released RBC's, the reticulocytes, are increased in size over normal RBC's, which decrease in size slightly with aging.
  • 28. This CBC demonstrates findings suggestive of spherocytosis, a condition in which the RBC's are small and round (rather than the normal biconcave appearance) with increased hemoglobin content. This is indicated here by the increase MCHC (mean corpuscular hemoglobin concentration). There is a rare condition known as hereditary spherocytosis. Also, RBC's in the condition of autoimmune hemolytic anemia can also appear similarly.
  • 30. Symptoms of Anemia • Fatigue • Shortness of breath • Dizziness • Pale or yellowish skin • Swollen tongue that may appear dark red • Weight loss • Diarrhea • Numbness or tingling in your hands and feet • Muscle weakness • Irritability • Unsteady movements • Mental confusion or forgetfulness
  • 31. Anemia Definition: Decrease in hemoglobin concentration below the normal value for the age, sex and for the given individual
  • 32. Classification of anemias There are many classifications of anemia • Based on underlying mechanisms • Morphologic characteristics
  • 33. Anemias due to BLOOD LOSS Mechanism Specific Examples BLOOD LOSS Acute blood loss Trauma Chronic blood loss Gastrointestinal tract lesions, gynecologic disturbances
  • 34. INCREASED RED CELL DESTRUCTION (HEMOLYSIS) Inherited genetic defects Red cell membrane disorders Hereditary spherocytosis, hereditary elliptocytosis Enzyme deficiencies Hexose monophosphate shunt enzyme G6PD deficiency, glutathione synthetase deficiencies deficiency Glycolytic enzyme deficiencies Pyruvate kinase deficiency, hexokinase deficiency Hemoglobin abnormalities Deficient globin synthesis Thalassemia syndromes Structurally abnormal globins Sickle cell disease, unstable hemoglobins (hemoglobinopathies) Acquired genetic defects Deficiency of phosphatidylinositol-linked Paroxysmal nocturnal hemoglobinuria glycoproteins Antibody-mediated destruction Hemolytic disease of the newborn (Rh disease), Mechanical trauma transfusion reactions, drug-induced, autoimmune disorders Microangiopathic hemolytic anemias Hemolytic uremic syndrome, disseminated intravascular coagulation, thrombotic thrombocytopenia purpura Cardiac traumatic hemolysis Defective cardiac valves Repetitive physical trauma Bongo drumming, marathon running, karate chopping Infections of red cells Malaria, babesiosis Toxic or chemical injury Clostridial sepsis, snake venom, lead poisoning Membrane lipid abnormalities Abetalipoproteinemia, severe hepatocellular liver disease Sequestration Hypersplenism
  • 35. DECREASED RED CELL PRODUCTION Inherited genetic defects Defects leading to stem cell Fanconi anemia, telomerase defects depletion Defects affecting erythroblast Thalassemia syndromes maturation Nutritional deficiencies Deficiencies affecting DNA B12 and folate deficiencies synthesis Deficiencies affecting hemoglobin Iron deficiency anemia synthesis Erythropoietin deficiency Renal failure, anemia of chronic disease Immune-mediated injury of Aplastic anemia, pure red cell progenitors aplasia Inflammation-mediated iron Anemia of chronic disease sequestration Primary hematopoietic neoplasms Acute leukemia, myelodysplasia, myeloproliferative disorders ( Chapter 13 ) Space-occupying marrow lesions Metastatic neoplasms, granulomatous disease Infections of red cell progenitors Parvovirus B19 infection Unknown mechanisms Endocrine disorders, hepatocellular liver disase
  • 36. END
  • 37. Dr.CSBR.Prasad, M.D., Associate Professor of Pathology, Sri Devaraj Urs Medical College, Kolar-563101, Karnataka, INDIA. csbrprasad@reiffmail.com