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USMLE - Hematology/Oncology Part 1

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Red blood cells (erythrocytes) have a lifespan of approximately 120 days.

Lifespan of erythrocyte

120 days

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Key Terms

Term
Definition

Lifespan of erythrocyte

120 days

Anisocytosis

Varying sizes

Poikilocytosis

Varying shapes

Erythrocytosis

Polycythemia = ↑ Hematocrit

Reticulocyte

Immature erythrocyte marker of erythroid proliferation

Platelet

Derived from…

What do they contain

Storage

Derived from Megakaryocytes

Dense granules (ADP, Ca) and α granules (vWF, fibrinogen)

1/3 stored in spleen

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TermDefinition

Lifespan of erythrocyte

120 days

Anisocytosis

Varying sizes

Poikilocytosis

Varying shapes

Erythrocytosis

Polycythemia = ↑ Hematocrit

Reticulocyte

Immature erythrocyte marker of erythroid proliferation

Platelet

Derived from…

What do they contain

Storage

Derived from Megakaryocytes

Dense granules (ADP, Ca) and α granules (vWF, fibrinogen)

1/3 stored in spleen

Results of Thrombocytopenia or Platelet Dysfunction

Petechiae

vWF receptor

GpIb

Fibrinogen receptor

GpIIb/IIIa

Leukocyte

Subtypes

Normal range

Granulocytes (Neutrophils, Eosinophils, Basophils)

Mononuclear cells (Monocytes, Lymphocytes)

4000-10000

WBC differential

"Neutrophils Like Making Everything Better"

Neutrophils (60%)

Lymphocytes (30%)

Monocytes (7%)

Eosinophils (2%)

Basophils (<1%)

Neutrophil

Increased in what state?

Function

Histo

Granules

Bacterial infection

Phagocytic

Multilobed nucleus

Small numerous specific granules (ALP, Collagenase, Lysozyme, Lactoferrin)

Larger less numerous Azurophilic granules are lysosomes (Acid phosphatase, Peroxidase, β-glucuronidase)

Hypersegmented polys

Histo

Seen in

5 or more lobes

VitB12/Folate Deficiency

Increased Band Cells

What are they?

What do they reflect?

Immature Neutrophils

Increased myeloid proliferation (bacterial infection or CML)

Monocyte

Where do they exist?

What does it differentiate into?

Histo

In blood

Macrophages in tissue

Large, kidney shaped nucleus with extensive frosted glass cyto

Macrophage

Function

Lifespan

What activates them?

Marker

Phagocytosis, APC via MHCII

Long life in tissues

Activated by γ-Interferon

CD14

Eosinophil

Function

Histo

What does it produce?

Defends again helminthic infections. Phagocytic for Ag-Ab complex

Bilobate nucleus. Large eosinophilic granules

Produce Histaminase and Arylsulfatase to limit reaction following mast cell degranulation

Causes of eosinophilia

“NAACP”

Neoplastic, Asthma, Allergy, Collagen vascular disease, Parasites

Basophil

Function

Histo with function

Mediates allergic reactions

Basophilic granules with heparin (anticoagulant), Histamine (vasodilator), and Leukotrienes (LTD4)

Mast Cells

Function

Histo

Physiology

Molecules it releases

What type of reaction is it involved with?

Inhibition?

Allergic reactions in local tissue

Resemble basophils

Can bind Fc portion of IgE to membrane. IgE cross-links upon Ag binding –> degranulation

Releases Histamine, Heparin, Eosinophil chemotactic factors

Type I hypersensitivity reaction

Cromolyn prevents degranulation

Dendritic cells

Function

Role Re Immune systems

Expresses...

In skin they are called

Phagocytic APC

Link between innate and adaptive immune systems

MHCII and Fc receptor

Langerhans cells in skin

Lymphocyte

Mediates what kind of immunity

Subtypes

Histo

Adaptive immunity

B and T cells

Densely stained nucleus with small amount of cytoplasm

B Lymphocyte

What kind of immune response?

Where does it arise from?

Where does it mature?

Where does it migrate to?

What does it differentiate into?

Function

MHC

Markers

Humoral response

Bone marrow

Bone marrow

Migrates to peripheral lymphoid tissues (follicles of lymph nodes, white pulp of spleen, unencapsulated lymphoid tissue)

When encounters Ag, differentiates into Ab producing plasma cell and memory cells

APC via MHCII

CD19 and CD20

Plasma Cell

Function

Histo

Pathology

Ab production

Off center nucleus, clock face chromatin, RER, well developed Golgi

Multiple Myeloma

T Lymphocyte

What kind of immune response?

Where does it arise from?

Where does it mature?

What does it differentiate into?

Surface marker

Percentage of circulating lymphocytes

Cellular immune response

Bone marrow

Thymus

Tc cells (CD8), Th (CD4), Treg (CD28)

CD3

80%

Blood group A

A Ag and B Ab

Blood group B

B Ag and A Ab

Blood group AB

A and B Ag. No Abs

Universal Recipient of RBCs

Universal Donor of Plasma

Blood group O

No Ag. A and B Abs

Universal donor of RBCs

Universal Recipient of Plasma

Rh factor

Ag on RBC surface

Erythroblastosis Fetalis

PathoPhys

Treatment

Rh- mother exposed to fetal Rh+ blood. Mother makes anti-Rh IgG that crosses placenta and causes hemolytic disease in the next fetus

Rho (D) immune globulin for mother at first delivery to prevent initial sensitization of Rh- mother to Rh Ag

Blood groups Re crossing placenta

anti A and anti B IgM does not cross placenta

| anti Rh IgG does cross the placenta

Intrinsic Coagulation Pathway

Collagen, Basement membrane, Activated platelets, or HMWK --> XII --> XI --> IX

IX + VIII --> X

XII --> Kallikrein

Extrinsic Coagulation Pathway

Thromboplastin (tissue factor) --> VII --> X

Common Coagulation Pathway

X + V --> II (thrombin) --> Fibrin

XIII (fibrin stabilizing factor) helps stabilize fibrin mesh

Thrombin also activates V, VIII, XIII

Kinin Cascade

Kallikrein thurs HMWK into Bradykinin

| Bradykinin ↑ Vasodilation, Permeability, and Pain

Fibrinolytic System

XII --> Kallikrein --> Plasmin --> Fibrin mesh degradation

| Plasmin also activates C3

Which reactions of the coagulation cascade require Ca and Phospholipids

XIa --> IX

VII --> VIIa

VIIa and (IXa + VIIIa) activation of X

Xa + Va activation of II

Hemophilia A

Deficiency in VIII

Hemophilia B

Deficiency of IX

VitK Pathway

Oxidized VitK --> [epoxide reductase] --> Reduced VitK

| Reduced VitK is a cofactor for the maturation of II, VII, IX, X, C, and S

Warfarin

| MoA

Inhibits Epoxide Reductase

Why are neonates given VitK?

They lack enteric bacteria that produce VitK

What does vWF do?

Carries/protects VIII

Anticoagulation cascade

Thrombomodulin on endothelial cells --> Protein C

| C + S cleaves and inactivates Va and VIIIa

What does antithrombin do?

Inhibits activated forms of II, VII, IX, X, XI, XII

Function of Heparin

Activates Antithrombin

Factor V Leiden mutation

| Classical presentation

Factor V resistant to inhibition by protein C

| DVT --> PE

tPA

Thrombolytic that activates plasmin

Platelet Plug Formation Schematic

Injury: vWF binds exposed collagen upon endothelial damage

Adhesion: Platelets bind vWF via Gp1b and release Ca and ADP.

Activation: ADP binding induces GpIIb/ IIIa expression on platelet surface --> aggregation

How does ADP affect coagulation

Released by platelets.

| Helps platelets adhere to endothelium and induces platelets to express GpIIb/IIIa at platelet surface

Platelet Aggregation Pathway

Fibrinogen binds GpIIb/IIIa and links platelets

Pro Platelet Aggregation Factors

TXA2 (released by platelets), ↓ blood flow, ↑ platelet aggregation

Anti Platelet Aggregation Factors

PGI2 and NO (released by endothelial cells)

↑ blood flow

↓ platelet aggregation

Ticlopidine

Inhibits ADP induced expression of GpIIb/IIIa

| Causes Neutropenia, Oral Ulcers, Fever

Clopidogrel

Inhibits ADP induced expression of GpIIb/IIIa

Abciximab

Inhibits GpIIb/IIIa directly

ESR

What causes it to increase?

↑ ESR

↓ ESR

Acute phase reactants in plasma (Fibrinogen) cause RBC aggregation and ↑ ESR

↑: Infection, Autoimmune, Malignancy, Pregnancy

↓: "CHaMP"

Polycythemia, Sickle Cell Anemia, CHF, Microcytosis, Hypofibrinogenemia

Acanthocyte

Spur cell indicative of Liver disease or Abetalipoproteinemia (cholesterol dysregulation)

Basophilic Stippling

"BASte the ox TAiL"

| Thalassemias, Anemia of chronic disease, Lead Poisoning

Bite Cell

G6PD deficiency

Eliptocyte

Hereditary Elliptocytosis

Macro-Ovalocyte

Megaloblastic anemia (w/ hypersegmented polys) and Marrow failure

Ringed Siderblasts

Sideroblastic anemia

| Excess Fe in Mito

Schistocyte

Helmet Cell

| DIC, TTP/HUS, Traumatic Hemolysis (metal heart valve prosthesis)

Sickle Cell

Sickle Cell Anemia

Spherocyte

Hereditary spherocytosis, Autoimmune hemolysis

Teardrop cell

"RBC sheds a tear because it has been forced out of its home"

Bone marrow infiltration (myelofibrosis)

Target Cell

"HALT said the hunter to his target"

| HbC disease, Asplenia, Liver disease, Thalassemia

Heinz Bodies

Process

Associated pathology

Oxidation of sulfhydryl groups leads to denatured Hb precipitation and damage to RBC membrane --> formation of bite cells

G6PD deficiency and α-thalassemia

Howell-Jolly Bodies

What is it?

How are they normally dealt with?

Associated pathology

Basophilic nuclear remnants found in RBCs

Normally removed from RBCs by splenic macrophages

Functional hyposplenia, asplenia, mothball ingestion (naphthalene)

Microcytic Anemias

"Find Those Small Plump Cells"

| Iron Deficiency, ACD, Thalassemia, Pb poisoning, Sideroblastic anemia

Nonhemolytic Normocytic Anemias

ACD, Aplastic, Chronic Kidney Disease

Hemolytic Normocytic Anemias

Intrinsic: "SHEEPS"

Spherocytosis, G6PD or PK deficiency, HbC, Sickle Cell Anemia, Paroxysmal Nocturnal Hemoglobinuria

Extrinsic: Autoimmune, Microangiopathic, Macroangiopathic, Infections

Megaloblastic Macrocytic Anemias

Folate deficiency, B12 deficiency, Orotic Aciduria

NonMegaloblastic Macrocytic Anemias

Liver disease, Alcoholism, Reticulocytosis

Iron Deficiency Anemia

What kind of anemia

What causes it?

PathoPhys

Labs

Histo

How may it manifest

Microcytic, Hypochromatic

↓ Fe due to chronic bleeding, malnutrition, or pregnancy

Impaired final step in heme synthesis

↓ Fe and Ferritin, ↑ TIBC

Microcytosis (MCV<80) and hypochromia

Plummer Vinson Syndrome

α Thalassemia

What kind of anemia

PathoPhys

Epidemiology

How # of gene mutations re disease

Microcytic, Hypochromatic

α globin gene mutation

cis deletion in Asians, trans deletions in African
4 deletions: No α, excess γ forms γ4 (Hb Barts), Incompatible with life (Hydrops Fetalis)

3 deletions: HbH disease. Very little α, excess β forms β4 (HbH)

1-2 gene deletions: no clinical significance

β Thalassemia

What kind of anemia

PathoPhys

Epidemiology

Microcytic, Hypochromatic

Point mutation in splice sites and promoter sequence --> ↓ β

Mediterranean populations

β Thalassemia minor

PathoPhys

Symptoms

Diagnosis

Heterozygote: β chain underproduced

Asymptomatic

Increased HbA2 on electrophoresis

β Thalassemia major

PathoPhys

Symptoms

Treatment

Complications

Presentation

Hb

Homozygote: β chain absent

Severe anemia

Blood transfusions (--> hemochromatosis)

Marrow expansion (crew cut on skull XR) --> skeletal deformities. Chipmunk facies

HbF (α2γ2)

Presentation of HbS/β-Thalassemia Heterozygote

Mild to moderate sickle cell disease depending on amount of β globin production

Lead Poisoning

What kind of anemia

PathoPhys

Presentation

Treatment

Microcytic, Hypochromatic

Pb --/ ferrochelatase and ALA dehydratase which leads to ↓ heme synthesis

Pb --/ rRNA degradation causing RBCs to retain rRNA aggregates (Basophilic Stipling)

"LEAD"

Lead lines on Gingivae (Burton's Lines) and on metaphysis of long bones

Encephalopathy and Erythrocyte basophilic stippling

Abdominal colic and sideroblastic Anemia

Drops (wrist and foot)

Treat with Dimercaprol and EDTA

Succimer in children

Sideroblastic Anemia

What kind of anemia

PathoPhys

What causes it?

Histo

Labs

Treatment

Microcytic, Hypochromatic

Defect in Heme synthesis

X linked defect in δALA synthase, EtOH, Lead, Isoniazid

Ringed sideroblasts (with iron laden mito)

↑ Fe and ferritin, Normal TIBC

Treat with VitB6

Megaloblastic Anemia

Basic Pathology

Consequences

Impaired DNA synthesis --> maturation of nucleus delayed relative to cytoplasm

Ineffective erythropoiesis --> pancytopenia

Folate Deficiency

What kind of anemia

Etiologies

Presentation

Histo

Labs

Megaloblastic

Malnutrition (alcoholics), malabsorption, antifolates (methotrexate, trimethoprim, phenytoin), ↑ requirement (hemolytic anemia, pregnancy)

Glossitis

Hypersegmented neutrophils

↓ Folate, ↑ Homocysteine, normal Methylmalonic acid

B12 Deficiency

What kind of anemia

Etiologies

Presentation

Histo

Labs

Megaloblastic

Insufficient intake, Malabsorption, Pernicious anemia, Diphyllobothrium latum (fish tapeworm), PPI

Glossitis, B12 invovled with FA and myelin synthesis leading to Peripheral neuropathy w/ sensorimotor dysfunction, Posterior column (vibration/propioception), Lateral CST (spasticity), and Dementia

Hypersegmented neutrophils

↓ B12, ↑ Homocysteine, ↑ Methylmalonic acid

Orotic Aciduria

What kind of anemia?

PathoPhys

Presentation

Histo

Labs

Treatment

Megaloblastic

Enzyme deficiency impairs conversion of uridine from orotic acid

Children with glossitis and megaloblastic anemia that cannot be cured by folate or B12

Hypersegmented neutrophils

Orotic acid in urine

Uridine monophopshate to bypass mutated enzyme

NonMegaloblastic Macrocytic Anemia

Pathology

What causes it?

Macrocytic anemia in which DNA synthesis is unimpaired

| Liver disease, Alcoholism, Retculocytosis, Drugs (5FU, AZT, Hydroxyurea)

Intrinsic Hemolytic Normocytic, Normochromic Anemias

Intravascular w/ examples and findings

Extravascular w/ examples and findings

Intra: Paroxysmal nocturnal hemoglobinuria or mechanical destruction

↓ haptoglobin, ↑ LDH, hemoglobin in urine

Extra: Hereditary spherocytosis

Macs in spleen clears RBCs. ↑ LDH + ↑ UCB causes jaundice

Anemia of Chronic Disease

What kind of anemia?

PathoPhys

Findings

What can it become?

Normocytic, Normochromic NonHemolytic

Inflammation --> ↑ hepcidin

Hepcidin is released by liver binds ferroportin on intestinal mucosal cells and macs thus inhibiting iron transport

↓ release of iron from macs

↓ Fe, ↓ TIBC, ↑ Ferritin

Can become microcytic, hypochromic

Aplastic Anemia

What kind of anemia

What causes it?

Normocytic, Normochromic NonHemolytic

Caused by failure or destruction of myeloid stem cells due to: Radiation and drugs (benzene, chloramphenicol, alkylating agents, antimetabolites), Viral agents (parvovirus B19, EBV, HIV, HCV), Fanconi's Anemia, Idiopathic (immune mediated, stem cell defect, may follow acute hepatitis)

Aplastic Anemia

Labs/Histo

Presentation

Treatment

Pancytopenia, severe anemia, Leukopenia, Thrombocytopenia, Normal cell morphology, Hypocellular bone marrow with fatty infiltration (dry bone marrow tap)

Fatigue, malaise, pallor, purpura, mucosal bleeding, petechiae, infection

Withdrawal of offending agent, Immunosuppressive regimens (antithymocyte globulin, cyclosporine), allogeneic bone marrow transplantation, RBC and platelet transfusion, G-CSF or GM-CSF

How does chronic kidney disease lead to anemia?

| What kind of anemia?

↓ erythropoietin --> ↓ hematopoiesis --> Normocytic, Normochromic NonHemolytic anemia

Hereditary Spherocytosis

What kind of anemia?

PathoPhys

How do RBCs look?

What happens to RBCs

Presentation

Findings

Treatment

Extravascular Intrinsic Hemolytic Normocytic Anemia

Defects in proteins interacting with RBC membrane (Ankryn, Band3, Protein4.2, Spectrin)

Less membrane causes small and round RBCs with no central pallor (↑ MCHC, ↑ red cell distribution width)

Premature removal of RBC by spleen

Splenomegaly, Aplastic crisis (Parvovirus B19 infection)

osmotic fragility test, normal or ↓ MCV with abundance of cells; Masks microcytia

Splenectomy

G6PD Deficiency

What kind of anemia?

Inheritance

PathoPhys

What happens to RBCs?

Presentation

Histo

Intra/Extra-vascular Intrinsic Hemolytic Normocytic Anemia

X linked

Defective G6PD --> ↓ Glutathione --> ↑ RBC susceptibility to oxidant stress (sulfa drugs, infections, fava beans)

RBCs destroyed extravascularly

Back pain followed a few days later by hemoglobinuria

Heinz bodies and bite cells

PK deficiency

What kind of anemia

Inheritance

PathoPhys

Presentation

Extravascular Intrinsic Hemolytic Normocytic Anemia

AR

Defective PK --> ↓ ATP --> rigid RBCs

Hemolytic anemia in a newborn

HbC defect

What kind of anemia

PathoPhys

HbSC vs HbSS

Extravascular Intrinsic Hemolytic Normocytic Anemia

Glutamic Acid --> Lysine mutation at reside 6 of β globin

HbSC less severe than HbSS

Paroxysmal Nocturnal Hemoglobinuria

What kind of anemia

PathoPhys

Genetics

Presentation

Labs

Treatment

Intravascular Intrinsic Hemolytic Normocytic Anemia

↑ complement mediated RBC lysis (impaired synthesis of GPI anchor or decay-accelerating factor that protects RBC membrane from complement

Acquired mutation in hematopoietic stem cell

Hemolytic anemia, Pancytopenia, Venous Thrombosis

CD55/59 negative RBCs on flow cytometry

Eculizumab

Sickle Cell Anemia

What kind of anemia?

Genetics

Pathogenesis

Newborns

Heterozygotes

Extravascular Intrinsic Hemolytic Normocytic Anemia

HbS point mutation in β globin at 6th residue (glutamic acid --> val)

Low O2 or dehydration precipitates sickling (deoxidized HbS polymerizes) --> anemia and vaso-occlusive disease

Newborns are initially asymptomatic b/c of ↑HbF and ↓HbS

Hets resistant to malaria