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Flashcards in Anemias Deck (100):
1

Macrocytic anemia is divided to

1. Megaloblastic
2. Non-megaloblastic

2

Megaloblastic macrocytic anemias - types

1. B12 deficiency
2. Folate deficiency
3. Orotic aciduria

3

Non-Megaloblastic macrocytic anemias

1. Hypothyroidism
2. Liver disease
3. Alcoholism
4. Reticulocytosis
5. Diamond-Blackdan anemia

4

Normocytic anemia is divided to

1. Nonhemolytic (reticulocytes normal or decreased)
2. Hemolytic (reticulocyte increased)

5

Nonhemolytic normocytic anemias

1. Anemia of chronic disease (early)
2. Iron deficiency (early)
3. Chronic kidney disease
4. Aplastic anemia

6

Hemolytic normocytic anemias are divided to

1. Intrinsic
2. Extrinsic

7

Extrinsic Hemolytic normocytic anemias

1. Autoimmune
2. Macroangiopathic
3. Microangiopathic
4. Infections

8

Intrinsic Hemolytic normocytic anemias

1. RBC membrane defects (hereditary spherocytosis)
2. RBC enzymes deficiency (G6PD, pyruvate kinase)
3. HBC defects
4. Paroxysmal nocturnal hemlglobinuria
5. Sickle cell anemia

9

Causes of iron deficiency

Chronic bleeding (gi, menorrhagia)
Malnutrition
Malabsorption
Increased demand (pregnancy)

10

Iron deficiency iron labs

- Decreased iron
- Decreased ferritin
- Increase TIBC
- microcytosis and hypochromasia (central pallor)

11

Iron deficiency symptoms

- Fatigue
- Conjunctival pallor
- Spoon nails (koilonychia)
- Macrocytosis and hypochromia
- pica (consumption of nonfood substance)
- Plummer-Vinson syndrome

12

Plummer-Vinson triad

1. Iron deficiency anemia
2. Esophageal web
3. dysphagia
(also atrophic glossitis)

13

a Thalassemia: cis vs trans thalassemia

Cis: Asia, -/- a/a (same chromosome)
Trans: Africa, a/- a/- (separate chormosomes)

14

4 allele a deltion

Hb bart (4γ)
Hydrops fetalis

15

3 allele a deletion

very little α
HbH (4β)

16

β-thalassemia mechanism

Point mutation in splice sites and promoters--> decreased β-globin synthesis

17

Β thalassemia minor (heterozygotes) - definition/ mechanism/presentation/diagnosis

heterozygote --> β chain is underproduced --> usually asymptomatic
HbA2>3,5% on electrophoresis

18

Major β-thalassemia major - presentation (besides anemia) and mechanism (when starts)

1. marrow expansion --> skeleta deformities (Crew cut on skull x ray) + chipmunk facies
2. extramedullary hematopoiesis --> hepatosplenomegaly
Until 6 months is asymptomatic (HbF)

19

Major β-thalassemia major - definition/lab/treatment

homozygote --> β chain is absent
severe microcytic, hypochromic anemia with target cells and increased anisopoikilocytosis, high HbF
treatment: blood transfusion (2ry hemochromatosis)

20

HbS/β-thalassemia heterozygote

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

21

Microcytic anemias

1. Iron deficiency (late)
2. Thalassemias
3. Anemia of chronic disease (late)
4. Lead poisoning
5. Sideroblastic anemia

22

Lead inhibits (causing)

Ferrochelatase and ALA dehydratase --> decreases heme and increase protoporphyrin
rRNA degradation --> rRNA aggregation --> basophilic stippling

23

Lead poisoning symptoms and signs

1. Burton lines
2. Metaphysis lines on x ray
3. Encephalopathy
4. Erythrocyte basophilic stippling
5. Siderblastic anemia
6. ABDOMINAL COLIC
7. Drops of wrist and foot
8. KIDNEY DISEASE

24

Used for lead chelation in kids

Succimer

25

Lead poisoning-first line treatment

Dimercaprol, EDTA

26

Sideroblastic anemia types of causes (and causes)

1. Genetic --> X-linked defect in δ-ALA synthase gene
2. acquired --> Myelodysplastic syndrome
3. reversible --> Alcohol (MC), Lead, Vit B6 deficiency, Isoniazid, Copper deficiency

27

Genetic causes of sideroblastic anemia

X-linked defect in δ-ALA synthase gene

28

Causes of acquired sideroblastic anemia

Myelodysplastic syndrome

29

Causes of reversible sideroblastic anemia

1. Alcohol (MC)
2. Lead
3. Vit B6 deficiency
4. Isoniazid
5. Copper deficiency

30

sideroblastic anemia - labs

- Prussian blue-stained mitochondria (iron) seen in bone morrow (Ringed sideroblasts)
-basophilic stippling of RBCs in peripheral smear
- increased iron, normal/low TIBC, increased ferritin

31

Findings of megaloblastic anemia

mechanism: impaired DNA synthesis --> maturation of nucleus of precursor cells in bone marrow delayed relative to maturation of cytoplasm
findings: 1. RBC macrocytosis 2. Hypersegmented neutrophils 3. Glossitis

32

Causes of folate defciency

1. Malnutrition (alcohol)
2. Malabsorption
3. Drugs (trimethoprim, phenytoin, methotrexate)
4. Requirement (hemolytic anemia, pregnancy)

33

Causes of B12 (cobolamin) deficiency

1. Insufficient intake (veganism)
2. Malabsorption (crohn)
3. Pernicious anemia
4. Diphyllobothrium latum
5. Gastrectomy

34

Folate deficiency vs b12 deficiency according to methylmalonic acid, homocystein, and neurologic symptoms

1. Methylmalonic acid (increased only in B12)
2. Neurologic symptoms (only in B12)
3. Homocysteine (increased in Both)

35

Neurologic symptoms of B12 deficiency (and why)

Sabacute combined degeneration due to its involvement in fatty acid pathays and myelin synthesis:
1. Spinocerebellar tract
2. Lateral corticospinal tract
3. Dorsal column dysfunction

36

Orotic aciduria pathophysiology

Defect in UMP synthesis (orotic acid to UMP, de novo pyrimidine synthesis pathway)
AR

37

Orotic aciduria symptoms

1. Failure to thrive
2. Developmental delay
3. Megaloblastic anemia refractory to folate and B12
(NO HYPERAMMONIA)

38

Orotic aciduria treatment/diagnosis

UMP (to bypass)
diagnosis: Orotic acid in urine

39

Orotic aciduria vs ornithine trancarbamylase

Orotic aciduria has no hyperammonemia

40

Anemia of chronic disease pathophysiology

Inflammation--> increases hepsidin --> binds ferroportin (on intestinal mucosal and macrophages) inhibiting iron trnasport--> decreases the releasing of iron from macrophages and decrease absorption

41

Anemia of chronic disease - associated conditions/treatment

1. RA 2. SLE 3. Neoplasia 4. Chronic kidney disease
treatment: EPO in chronic kidney

42

Anemia of chronic disease iron status / type of anemia

Decreased iron
Decreased TIBC
Increased ferritin
--> Normocytic, but can become microcytic

43

Aplastic anemia is caused by

Failure or destruction of myeloid stem cells

44

Causes of aplastic anemia

1. Radiation 2. Drugs (benzene, chloramphenicol, alkylating agents) 3. Viral agents (parvovirus B19, EBV, HIV, HCV)
4. Fanconi anemia (DNA repair defect) 5. Idiopathic (immune mediate, 1ry stem cell defect)-may follow acute hepatitis

45

Aplastic anemia-bone marrow appearance

Hypocellular
Fatty infiltration (Dry bone marrow tap)

46

Aplastic anemia symptoms and findings

Fatigue, malaise, pallor, purpura, mucosal bleeding, petechiae, infections
Pancytopenia (severe anemia, leukopenia, thrombocytopenia) --> but normal cell morphology

47

Aplastic anemia treatment

1. Withdrawal of offending agent
2. Immunosuppressive regimens (antithymocyte globulin, cyclosporine)
3. Bone marrow allograft
4. RBC/platelets transfusion
5. Bone marrow stimulation (eg. GM-CSF)

48

Hereditary spherocytosis - due to defect in

proteins interacting iwth RBC membrane skeleton and plasma membrane
1. Ankyrin
2. Band 3
3. Protein 4.2
4. Spectrin

49

Hereditary spherocytosis labs

1. Osmotic fragility test (+)
2. Normal to decreased MCV with abudance of cells
3. Increased RDW
4. Increased MCHC (no central pallor)
5. round RBCs with less surface area

50

Hereditary spherocytosis treatment/intravascular vs extravascular/susceptible for

- Splenectomy (causes splenomegaly)
- extravascular hemolysis
- susceptible for B19

51

Most common enzymatic deficiency of RBCs

G6PD
XR

52

G6PD location of hemolysis / mechanism

Intravascular AND extravascular
defect in G6PD --> low glutathione --> high RBCs susceptibility to oxidant stress

53

G6PD deficiency - hemolytic anemia following

1. Sulfa drugs
2. Antimalarias
3. Infections
4. Fava beans

54

G6PD deficiency symptoms, beside anemia

BACK PAIN
HEMOGLOBINURIA (few days after oxidant stress)

55

Pyruvate deficiency anemia - presentation

Hemolytic anemia in a newborn

56

Pyruvate deficiency anemia pathophysiology

AR. Decreased ATP--> rigid RBCs --> extravascular hemolysis

57

HBC pathophysiology

Lysine instead of glutamic acid in β globin

58

Starting event of paroxysmal nocturnal hemoglobinuria / mechanism

Acquired mutation in hematopoietic stem cell --> impaired synsthesis of for GPI anchor for decay-accelerating factor that protects RBCs from complement --> increased C-mediated intravascular RBCs lysis

59

paroxysmal nocturnal hemoglobinuria increases the incidence of

ACUTE LEUKEMIAS

60

paroxysmal nocturnal hemoglobinuria triad

1. Coombs hemolytic anemia
2. Pancytopenia
3. Venous thrombosis

61

paroxysmal nocturnal hemoglobinuria flow cytometry

CD 55/59 ( - )RBCs

62

paroxysmal nocturnal hemoglobinuria treatment

Eculizumab (terminal complement inhibitor)

63

Sickle cell anemia mutation / intravascular vs extravascular hemolysis

Valine instead of Glutamic acid
intravascular + extravascular

64

Sickle cell x ray

Crew cut on skull (marrow expansion)

65

Sickle cell complications

1. Aplastic crisis (parvovirus B19)
2. Autosplenectomy (howell-jolly bodies)
3. Splenic infract/sequestration
4. Salmonella osteomyelitis
5. Renal papillary necrosis (low PO2 in papilla) --> microhematuria (medullary infracts)
6. Painful crisis (vaso-occlusive): dactylitis (painful swelling of hands/feets), acute chest syndrome, avascular necrosis, stroke. priapism

66

Sickle cell anemia diagnosis and treatment

Diagnosis: Hb electrophoresis
Treatment: hydroxyurea, hydration

67

Hemolytic anemia-infections (mechanism)

Malaria and Babesia
increased destruction of RBCs

68

Causes of Macroangiopathic anemia

Prosthetic heart valce and Aortic stenosis --> mechanical destruction

69

Causes of microangiopathic anemia

DIC, SLE, MALIGNANT HYPERTENSION, TTP/HUS

70

Pregnancy (ocp use) - iron status

Increases the Transferin/TIBC
Decrease the transferin saturation

71

Autoimmune hemolytic anemia types

Warm (IgG)
Cold (IgM and complement)

72

Causes of Warm agglutinin

1. SLE
2. CLL
3. Drugs (methyldopa)
4. Idiopathic
--> chronic anemia

73

Causes of Cold agglutinin

1. CLL
2. Mycoplasma pneumonia
3. Infectious mononucleosis
4. Idiopathic
--> acute anemia

74

Megaloblastic anemia mechanism

Impaired DNA synthesis --> maturation of nucleus of precursor cells i. Bone marrow delayed relative to maturation in cytoplasm

75

B12 deficiency --> mechanism of neurological symptoms

Involvement of B12 in fatty acid pathway and myelin synthesis

76

thalassemia-a - 2 allele vs 1 allele deletion

2 --> less clinically severe anemia
1 --> no anemia (clinically silent)

77

β-thalassemia - prevalent in

Mediterranean populations

78

risk of Lead exposure is increased in

old houses with chipped paint

79

sideroblastic anemia - treatment

B6, cofactor for δ-ALA synthase

80

how to predict simple the type of anemia (macro vs micro vs normocytic)

on peripheral blood smear, a lymphocyte nucleus is approximately the same size as a normocytic RBC:
if RBC larger than lymphocyte nucleus, consider macrocytosis. If smaller, microcytosis

81

B12 deficiency - historically is diagnosed with (explain)

Schilling test, a 4-stage test that determines if the cause is dietary insufficiency vs malabsorption
(WITH RADIOLABELED B12)

82

Non-Megaloblastic macrocytic anemias - mechanism / neutrophils

- DNA synthesis is unimpaired
- not hypersegmented

83

Diamond-Blackfan anemia - description

Rapid-onset anemia within 1st year of life due to intrinsic defect in erythroid progenitor cells

84

Diamond-Blackfan anemia - lab

increased % of HbF (but low total Hb)

85

Diamond-Blackfan anemia - presentation

1. short stature
2. craniofacial abnormalities
3. upper extremity malformations (triphalangeal thumbs) in up to 50% of cases

86

drugs that causes aplastic anemia

1. benzene
2. chloramphenicol
3. alkylating agents

87

aplastic anemia - EPO?

increased

88

HbSC - presentation

milder thatn HbSS patients

89

HbC - homozygotes - blood smear

hemoglobin crystals within RBCs and target cells

90

Heterozygoges of SC anemia - advantage

resistance to malaria

91

prevelance of sickle cell in African american

8% carry an HbS allele

92

RBC agglutination with cold exposure - presentation

acute anemia
painful, blue fingers and toes with cold exposure

93

Autoimmune anemia are usually Coombs ..?

positive

94

Direct Coombs test - mechanism

anti-Ig antibody (Coombs reagent added to patient's blood --> RBCs agglutinate if are coated with Ig

95

Indirect Coombs test - mechanism

normal RBCs added to patient serum --> if serum has anti RBC surface Ig, RBCs agglutinate whtn Coombs reagent added

96

The hemolytic anemias are divided according to

1. the cause of hemolysis (intrinsic vs extrinsic to the RBC)
2. the location of the hemolysis (intra vs extravascular)

97

extravascular hemolytic anemia - findings

1. Spherocytes in peripheral smear
2. high LDH
3. no hemoglobinuria/hemosiderinuria
4. increased UCB (--> jaundice)
5. urobilinogen in urine

98

intravascular hemolytic anemia - findings

1. low haptoglobin
2. high LDH
3. schistocytes
4. high reticulocytes
5. hemoglobinuria
6. hemosiderinuria
7. urobilinogen in urine
8. increased UCB

99

Fanconi anemia - mechanism of action

DNA repair defect causing bone marrow failure

100

Fanconi anemia - presentation

1. Aplastic anemia
2. Increased incidence of tumor/leukemia
3. Cafe au lait spots
4. Thumb/radial defects