Fa: Hem / Onc - Pathology (Rbc & Platelets) - 1

Front 1

What kind of RBC is this? What pathology is associated with this?

Back 1

Acanthocyte (Spur Cell)
- Liver disease
- Abetalipoproteinemia (state of cholesterol dysregulation

Front 2

What kind of RBC is this? What pathology is associated with this?

Back 2

Basophilic Stippling
- Anemia of chronic disease
- Alcohol abuse
- Lead poisoning
- Thalassemias

"BASically, ACiD alcohol is LeThal"

Front 3

What kind of RBC is this? What pathology is associated with this?

Back 3

Bite Cell
- 6GPD Deficiency

Front 4

What kind of RBC is this? What pathology is associated with this?

Back 4

Elliptocyte
- Hereditary elliptocytosis

Front 5

What kind of RBC is this? What pathology is associated with this?

Back 5

Macro-Ovalocyte
- Megaloblastic anemia (also associated with hypersegmented PMNs)
- Marrow failure

Front 6

What kind of RBC is this? What pathology is associated with this?

Back 6

Ringed Sideroblast
- Sideroblastic anemia
- Excess iron in mitochondria = pathologic

Front 7

What kind of RBC is this? What pathology is associated with this?

Back 7

Schistocyte / Helmet Cell
- DIC, TTP / HUS
- Traumatic hemolysis (ie, mechanical heart valve prosthesis)

Front 8

What kind of RBC is this? What pathology is associated with this?

Back 8

Sickle Cell
- Sickle cell anemia

Front 9

What kind of RBC is this? What pathology is associated with this?

Back 9

Spherocyte
- Hereditary spherocytosis
- Auto-immune hemolysis

Front 10

What kind of RBC is this? What pathology is associated with this?

Back 10

Teardrop cell
- Bone marrow infiltration (eg, myelofibrosis)
- RBCs shed a tear because it's forced out of its home in the BM

Front 11

What kind of RBC is this? What pathology is associated with this?

Back 11

Target Cell
- HbC disease
- Asplenia
- Liver disease
- Thalassemia

"HALT" said the hunter to his target

Front 12

What kind of RBC pathology is this? What causes its formation? What pathology is associated with this?

Back 12

Heinz Bodies
- Oxidation of hemoglobin sulfhydryl groups → denatured hemoglobin precipitation and phagocytic damage to RBC membrane → bite cells
- Visualized with special stains such as crystal violet
* Seen in G6PD deficiency
* Heinz body-like inclusions seen in α-thalassemia

Front 13

What kind of RBC pathology is this? What causes its formation? What pathology is associated with this?

Back 13

Howell-Jolly Bodies
- Basophilic nuclear remnants found in RBCs
- Normally removed from RBCs by splenic macrophages
* Seen in patients with functional hyposplenia or asplenia

Front 14

How can you categorize the types of anemias?

Back 14

- Microcytic (MCV <80 fL)
- Normocytic (MCV 80-100 fL)
- Macrocytic (MCV >80 fL)

Front 15

What are the types of microcytic anemias? Definition?

Back 15

MCV <80 fL
- Iron deficiency (late)
- Anemia of chronic disease (may initially present as a normocytic anemia)
- Thalassemias
- Lead poisoning
- Sideroblastic anemia

Front 16

What are the types of normocytic anemias? Definition?

Back 16

MCV 80-100 fL

Non-hemolytic (reticulocyte count normal or ↓)

Hemolytic (reticulocyte count ↑)
- Intrinsic
- Extrinsic

Front 17

What are the types of non-hemolytic, normocytic anemias? Definition?

Back 17

MCV 80-100 fL and reticulocyte count normal or ↓
- Anemia of chronic disease (may progress to microcytic anemia)
- Aplastic anemia
- Chronic kidney disease
- Iron deficiency (early, may progress to microcytic)

Front 18

What are the types of intrinsic hemolytic, normocytic anemias? Definition?

Back 18

MCV 80-100 fL with increased reticulocyte count
- RBC membrane defect (hereditary spherocytosis)
- RBC enzyme deficiency (G6PD or pyruvate kinase)
- HbC defect
- Paroxysmal nocturnal hemoglobinuria
- Sickle cell anemia

Front 19

What are the types of extrinsic hemolytic, normocytic anemias? Definition?

Back 19

MCV 80-100 fL with increased reticulocyte count
- Auto-immune
- Microangiopathic
- Macroangiopathic
- Infections

Front 20

What are the types of macrocytic anemias? Definition?

Back 20

MCV >100 fL

- Megaloblastic
- Non-megaloblastic

Front 21

What are the types of macrocytic, megaloblastic anemias? Definition?

Back 21

MCV >100 fL
- Folate deficiency
- B12 deficiency
- Orotic aciduria

Front 22

What are the types of macrocytic, non-megaloblastic anemias? Definition?

Back 22

MCV >100 fL
- Liver disease
- Alcoholism
- Reticulocytosis

Front 23

What is the most likely cause of this patient's conjunctival pallor?

Back 23

Anemia (possibly due to iron deficiency)

Front 24

What causes iron deficiency anemia?

Back 24

Decreased iron due to:
- Chronic bleeding (eg, GI loss or menorrhagia)
- Malnutrition / absorption disorder
- ↑ Demand (eg, pregnancy)

Front 25

What are the implications of an iron deficiency?

Back 25

Decreased completion of final step in heme synthesis

Front 26

What lab findings are associated with iron deficiency anemia?

Back 26

- MCV < 80 fL (microcytic)
- ↓ Iron
- ↑ TIBC
- ↓ Ferritin
- Hypochromia

Front 27

What other unrelated symptoms should you look for in a patient with iron deficiency anemia to check for another syndrome?

Back 27

Plummer-Vinson Syndrome:
- Also esophageal webs and atrophic glossitis

Front 28

What is the term for the triad of iron deficiency anemia, esophageal webs, and atrophic glossitis?

Back 28

Plummer-Vinson Syndrome

Front 29

What are the symptoms in Plummer-Vinson Syndrome?

Back 29

- Iron deficiency anemia
- Esophageal webs
- Atrophic glossitis

Front 30

What does this blood smear tell you?

Back 30

Iron Deficiency Anemia
- Microcytosis
- Hypochromia (central pallor)

Front 31

What is the defect in α-thalassemia?

Back 31

α-globin gene deletions → ↓ α-globin synthesis

Front 32

What kind of deletions can lead to α-thalassemia?

Back 32

- Cis deletion prevalent in Asian populations
- Trans deletion prevalent in African populations

Front 33

How many copies of the α-globin gene do you have? Implications?

Back 33

4 alleles:
- 1-2 allele deletion → no significant anemia
- 3 allele deletion → HbH disease, very little α-globin, excess β-globin forms β4 (HbH)
- 4 allele deletion → no α-globin, excess γ-globin forms γ4 (Hb Barts); incompatible with life (causes hydrops fetalis)

Front 34

What causes hydrops fetalis?

Back 34

4 α-globin allele deletion:
- No α-globin
- Excess γ-globin forms γ4 (Hb Barts)
- Incompatible with life

Front 35

What causes HbH disease?

Back 35

3 α-globin allele deletion:
- HbH disease, very little α-globin
- Excess β-globin forms β4 (HbH)

Front 36

What form of α-thalassemia is more common in Asians?

Back 36

Cis deletion of α-globin alleles

Front 37

What form of α-thalassemia is more common in Africans?

Back 37

Trans deletion of α-globin alleles

Front 38

Who is more likely to have β-thalassemia?

Back 38

Prevalent in Mediterranean poulations

Front 39

What causes β-thalassemia?

Back 39

Point mutations in splice sites and promoter sequences → ↓ β-globin synthesis

Front 40

What are the types of β-thalassemia?

Back 40

- β-thalassemia minor (heterozygote)
- β-thalassemia major (homozygote)
- HbS / β-thalassemia heterozygote

Front 41

What is the most severe form of β-thalassemia?

Back 41

β-thalassemia major (homozygote)
- β chain is absent → severe anemia

Front 42

What are the consequences of having absent β chain (β-thalassemia major)?

Back 42

- Severe anemia → requires blood transfusion
- Marrow expansion → skeletal deformities → "crew cut" on skull x-ray
- Chipmunk facies
- Extramedullary hematopoiesis → hepatosplenomegaly
- ↑ Risk of parvovirus B19-induced aplastic crisis

Front 43

What kind of infection are patients with β-thalassemia major at risk for? Complications?

Back 43

Parvovirus B19 → can induce an aplastic crisis

Front 44

What kind of hemoglobin is more common in patients with β-thalassemia major?

Back 44

HbF (α2γ2) - protective in the infant and disease only becomes symptomatic after 6 months

Front 45

What is the medium severity form of β-thalassemia?

Back 45

HbS / β-thalassemia heterozygote
- Mild to moderate sickle cell disease depending on the amount of β-globin production

Front 46

What is the least severe form of β-thalassemia?

Back 46

β-thalassemia Minor (heterozygote)
- β chain is underproduced, usually asymptomatic

Front 47

How do yo confirm diagnosis of β-thalassemia minor (heterozygote)?

Back 47

Confirm diagnosis by ↑ HbA2 (>3.5% on electrophoresis)

Front 48

What happens to RBCs in patients with β-thalassemia major?

Back 48

Note anisocytosis, poikilocytosis, target cells (arrows 1 and 2), microcytosis (arrow 3), and schistocytes (arrow 4)

Front 49

How does lead poisoning affect the blood?

Back 49

- Lead inhibits ferrochelatase and ALA dehydratase → ↓ heme synthesis and ↑ RBC protoporphyrin
- Also inhibits rRNA degradation, causing RBCs to retain aggregates of rRNA (basophilic stippling)

Front 50

Who is at risk for lead poisoning?

Back 50

High risk in old houses with chipped paint

Front 51

How does lead poisoning affect other organs besides the blood?

Back 51

LEAD:
- Lead Lines on gingivae and on metaphyses of long bones on x-ray
- Encephalopathy and Erythrocyte basophilic stippling
- Abdominal colic and sideroblastic anemia
- Drops: wrist and foot drop

Front 52

What does the arrow point at? Sign of?

Back 52

- Lead Lines on metaphyses of long bones on x-ray
- Sign of Lead Poisoning

Front 53

How does lead affect the gums?

Back 53

Lead Lines on gingivae = Burton lines
- Sign of lead poisoning

Front 54

How does lead affect the brain?

Back 54

Can cause encephalopathy

Front 55

How does lead affect the musculoskeletal system?

Back 55

Drops: wrist and foot drops

Front 56

How does lead affect the abdomen?

Back 56

Abdominal colic

Front 57

How do you treat lead poisoning?

Back 57

First line treatments:
- Dimercaprol
- EDTA

Succimer used for chelation for kids ("it sucks to be a kid who eats lead")

Front 58

What is wrong in this picture? Cause?

Back 58

Sideroblastic Anemia
- Defect in heme synthesis
- Hereditary: X-linked defect in δ-ALA synthase gene

Front 59

What causes sideroblastic anemia?

Back 59

- Genetic
- Acquired (myelodysplastic syndromes)
- Reversible (alcohol is most common, lead, vitamin B6 deficiency, copper deficiency, and isoniazid)

Front 60

What causes acquired sideroblastic anemia?

Back 60

Myelodysplastic syndromes

Front 61

What causes reversible sideroblastic anemia?

Back 61

- Alcohol is most common
- Lead
- Vitamin B6 deficiency
- Copper deficiency
- Isoniazid

Front 62

What are the lab findings in sideroblastic anemia?

Back 62

- ↑ Iron
- Normal TIBC
- ↑ Ferritin

Front 63

How do you treat Sideroblastic Anemia?

Back 63

Pyridoxine (B6, cofactor for δ-ALA synthase)