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 deficiencies

G6PD deficiency, glutathione synthetase deficiency

Glycolytic enzyme deficiencies Pyruvate kinase deficiency, hexokinase deficiency Hemoglobin abnormalities Deficient globin synthesis Thalassemia syndromes Structurally abnormal globins (hemoglobinopathies)

Sickle cell disease, unstable hemoglobins

Acquired genetic defects Deficiency of phosphatidylinositol-linked glycoproteins

Paroxysmal nocturnal hemoglobinuria

Antibody-mediated destruction Hemolytic disease of the newborn (Rh disease), transfusion reactions, drug-induced, autoimmune disorders

Mechanical trauma

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 depletion

Fanconi anemia, telomerase defects

Defects affecting erythroblast maturation

Thalassemia syndromes

Nutritional deficiencies

Deficiencies affecting DNA synthesis

B12 and folate deficiencies

Deficiencies affecting hemoglobin synthesis

Iron deficiency anemia

Erythropoietin deficiency Renal failure, anemia of chronic disease

Immune-mediated injury of progenitors

Aplastic anemia, pure red cell aplasia

Inflammation-mediated iron sequestration

Anemia of chronic disease

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

E N D

Dr.CSBR.Prasad, M.D.,

Associate Professor of Pathology,

Sri Devaraj Urs Medical College,

Kolar-563101,

Karnataka,

INDIA.

csbrprasad@reiffmail.com