Hematological Diseases of the Red Blood Cells PDF

# Hematological Diseases of the Red Blood Cells ## Table 1: Diseases and Pathology | Disease | Pathology | |---|---| | Anemia | Reduction of total circulating red cell mass | | Acute blood loss | Loss of intravascular volume | | Chronic blood loss | | | Hemolytic anemias | Shortened red cell life...

# Hematological Diseases of the Red Blood Cells ## Table 1: Diseases and Pathology | Disease | Pathology | |---|---| | Anemia | Reduction of total circulating red cell mass | | Acute blood loss | Loss of intravascular volume | | Chronic blood loss | | | Hemolytic anemias | Shortened red cell life span | | Hereditary Spherocytosis | Defect in RBC cell membrane | | Glucose-6-Phosphate Dehydrogenase Deficiency | Deficient or impaired enzyme function, RBCs have reduced ability to protect themselves again oxidative injuries | | Sickle Cell Disease | Deoxygenated hemoglobin, red cell distortion, vascular occlusion | | Thalassemia | Defect in globin synthesis cause decreased red cell production and life span | | Thalassemia trait | Defect in globin synthesis cause decreased red cell production and life span | | Hemoglobin H | Moderate to severe anemia | | Hydrops Fetalis | Most severe form of a-thalassemia | | Paroxysmal Cold Hemaglobulinuria | Presents often in children following infection to measles, mumps, CMV, EBV, Varicella, influenza | | Paroxysmal Noctural Hemoglobinuria | Hemolysis due to RBC membrane defect increased susceptibility to complement mediated lysis | | Immunohemolytic anemia | Antibodies bound to RBC lead to destruction | | Pernicous Anemia | Megaloblastic anemia | | Aplastic Anemia | Pancytopenia | | Pure Red cell aplasia | Red cell progenitors are completely absent from marrow or suppressed | | Polycythemia vera | Myleoproliferative disorder | ## Table 2: Causes, Effects and Diagnostic Tests | Cause | Effect | Diagnostic Tests | |---|---|---| | Blood loss, hemolysis, hereditary, immunohemolytic | Low oxygen transport capacity of blood | RBC count, Hgb, Hct, RBC indices | | Internal or external bleeding | Decreased blood pressure, can lead to cardiovascular collapse, shock and death | RBC count, Hgb, Hct, RBC indices | | Rate of blood loss exceeds production in marrow | Iron deficiency | RBC count, Hgb, Hct, RBC indices | | Destruction of red cells | Intravascular hemolysis | RBC count, Hgb, Hct, RBC indices | | Inherited disorder, autosomal dominant, Parovirus infection | Decreased lifespan of affected RBC to 10-20 days from 100-120, moderate splenomegaly, chronic hemolytic anemia | Family history, hematological findings, laboratory evidence (RBC count, Hgb, Hct, RBC indices) | | Recessive X-linked trait, Abnormalities in the hexose monophosphate shunt or glutathione metabolism, infections can trigger hemolysis, drugs, fava beans | Intravascular and extravascular hemolysis, older cells more prone, Natural protection from malaria | RBC count, Hgb, Hct, RBC indices | | Point mutation in B-globin in 6th codon replacement of glutamate with valine, Parovirus B19 can induce aplastic anemia | Hemoglobin in red cells is HbS, natural protection from malaria, chronic hemolysis, splenomagly | RBC count, Hgb, Hct, RBC indices, hemoglobin electrophoresis | | Inherited deletions of a-globin chains, normally 5 a-globin genes, severity depends on how many genes are affected | Lack of adequate hemoglobin | RBC count, Hgb, Hct, RBC indices, hemoglobin electrophoresis | | Deletion of two alpha globin genes | Lack of adequate hemoglobin | RBC count, Hgb, Hct, RBC indices, hemoglobin electrophoresis | | Deletion of three alpha globin genes | Prone to oxidation causing precipitation and intracellular inclusions | RBC count, Hgb, Hct, RBC indices, hemoglobin electrophoresis | | Deletions of all four alpha genes | severe tissue anoxia, massive hepatosplenomegaly | RBC count, Hgb, Hct, RBC indices, hemoglobin electrophoresis | | Acquired mutation in the phosphatidylinositol glycan Group A gene (PIGA), acquired genetic defect, X-linked | RBC hemolysis | RBC count, Hgb, Hct, RBC indices, urinalysis | | Presence of warm or cold antibodies | RBC hemolysis | RBC count, Hgb, Hct, RBC indices, urinalysis, Direct Coomb Antiglobulin Test | | Vitamin B12 deficiency, folic acid deficiency caused by decreased intake, increased requirement or impaired utilization, believed to be autosomal attack on the gastric mucosa | | RBC count, Hgb, Hct, RBC indices | | Can be acquired or idiopathic Neoplasms, drug exposure, automimmune disorder, parovirus | Absence or reduction of RBCs | RBC count, Hgb, Hct, RBC indices | | Can be relative to decreased plasma volume with dehydration | Absence or reduction of RBCs | RBC count, Hgb, Hct, RBC indices | | | Increased blood cell production | RBC count, Hgb, Hct, RBC indices | ## Table 3: Characteristics/Lab Findings and Patient Population | Characteristics/Lab Findings | Patient Population | |---|---| | Decrease Hgb, Hct, Hypochromic RBC's, microcytosis | | | Hemodilution and lowering of hematocrit | | | Decrease Hgb, Hct, Hypochromic RBC's, microcytosis, decrease iron | | | Decrease Hgb, Hct, Hypochromic RBC's, microcytosis | | | Spheroid shaped RBCs, small cells, dark staining with lack of central pallor, polychromatic | Prevalence in northern Europe | | Decrease Hgb, Hct, Hypochromic RBC's, microcytosis | Present in 10% of American Blacks and Middle East | | Sickle shaped RBCs, decreased Hgb and Hct, MCHC will be increased due to higher HbS concentration, presence of Howell Jolly bodies, bone marrow is hyperplastic | 8% to 10% of African American | | Blood smears can show severe red cell abnormalities, microcytosis, hypochromia, reticulocyte count is elevated, nucleated RBCs | Endemic to Mediterranean basin, Middles East, tropical Africa, Indian subcontinent, Asia | | Blood smears can show severe red cell abnormalities, microcytosis, hypochromia, reticulocyte count is elevated, nucleated RBCs | | | Blood smears can show severe red cell abnormalities, microcytosis, hypochromia, reticulocyte count is elevated, nucleated RBCs | | | Blood smears can show severe red cell abnormalities, microcytosis, hypochromia, reticulocyte count is elevated, nucleated RBCs | Fetus | | Blood smears show target cells, nucleated RBC, blood and hemoglobin in urine at night | Incidence of 2 to 5 per million in US | | Positive Direct Coombs, blood in urine | | | Mactocytic RBCs, hyperlobulated neutrophils | Occurs in all racial groups, more prevalent in Scandinavian and Caucasian populations, disease of older adults with median age of 60 | | Decreased red blood cell, decreased Hgb, Hct | | | Decreased red blood cell, decreased Hgb, Hct | | | Increased red blood cell count, increased Hgb and Hct | | ## Table 4: Treatments | Treatment | |----------------------------| | Blood transfusion, locate source of bleeding and correct | | Iron supplement, locate source of bleeding and correct | | Splenectomy | | Blood transfusion | | Intrauterine transfusion, lifelong blood transfusions, hematopoietic stem cell transplantation | | Therapeutic phlebotomy |