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Hematology > RBCs Diseases > Flashcards

RBCs Diseases Flashcards

1
Q

Aplastic Anemia

Bone marrow failure causing pancytopenia w/ hypocellular bone marrow

A

Mechanism: Bone Marrow Failure
Characteristic: Pancytopenia - Dec. RBCs, WBCs, Platelets

Classification

  1. Acquired - Idiopathic (no known cause), Secondary (chemicals, drugs)
  2. Inherited - Fanconi Anemia, Dyskeratosis Congenita, Shwachman Bodian Diamond Syndrom (SBDB)
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2
Q

Aplastic - Shwachman - Bodian Diamon Syndrome (SBDS)
* Mutation:
* Mechanism:
* Characteristic:
* Findings:

A

Mutation: Biallelic Mutation in SBDS gene
Mechanism: Mitotic Spindle Destabilization - short telomers in GRANULOCYTES
Characteristic: Pancreatic Insufficiency - GI Malabsorption
Findings:
Neutropenia
Hypocellular
Increase Fat Excretion, HbF

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3
Q

Paroxysmal Cold Hemoglobinuria (PCH)

A

Other name: Donath-Landsteiner Hemolytic Anemia
Common: Children
Cause: Anti-P autoantibody (IgG autohemolysin)
Mechanism: IgG Hemolysion targeting P antigen in RBCs at 4C (cold) or 37C (warm)
Diagnosis:
+ Anti-P Test (hemolysis)
+ DAT - Complement (C3b) only
+ Coombs Test

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4
Q

Paroxysmal Nocturnal Hemoglobinuria (PNH)

A

Mutation: Phospatidylinositol Glycan Class A gene
Characteristics: Hemolysis during SLEEP
Mechanism: Deficiency in Glycosylphosophatidyl Inositol (GPI) that inactivates complement activity - CD 55, CD 59 - COMPLEMENT MEDIATED HEMOLYSIS

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5
Q

Hb C Disease

A

Mechanism: GA to Lysine in 6th position
PBF: SHORT THICK RBCs
Characteristic: Hexagonal/ Pyramid shaped pointed end Crystals
Diagnosis: HPLC/Hb Electrophoresis

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6
Q

HbS Diseases - Sicke Cell Anemia

A

Mutation: Beta Chain in GA to Valince in 6th position
Mechanism: Deoxygenatiom triggers Sickling of RBCs that results to low O2 Saturation and affecting HbS polymerization which then transforms to liquid crystalline (tactoids).
Characteristic: Normochromic Normocytic
Hallmark: Vasso-occlusions

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7
Q

G6PD Deficiency

A

Mutation: G6PD gene at Long arm X chromosome at Xq28 locus (most common enzymopathy)
Mechanism: Def G6PD results Dec. NADPH making susceptible to Oxidative stress (cannot detoxify H2O2) –> OXIDATIVE DAMAGE
Characteristic: Heinz Bodies (insoluble complex)
Gold Standard: Qualitative Spectrophotometric Assay - Fluorescence: Inc. NADPH
Other Test:
Fluorescence Spot Test
Methemoglobin Reductase Test (Dye Reduction - Brown: G6PD Deficient)

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8
Q

Pyruvate Kinase Deficiency (PKD)

A

Mutation: PKLR gene
Mechanism: Cannot generate ATP -> Dehydration -> SHRINKAGE
Characteristics:
(+) Howell Jolly Bodies, Papenheimer Bodies
(+) Echinocyte, Target Cells, Burr Cells
Diagnosis: NAD+ is proportional to PK activity (No fluorescence)
1. Quantitative PK Assays:
2. Qualitative PK Assays

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9
Q

Overhydrated Hereditart Stomatocytosis (OHS)

A

Mutation: RHAG gene
Deficiency: Stomatin (regulation of ion channels)
Mechanism: Cation Permeability with Increase - Na+, Decrease - K –> Swelling
Findings: Decrease - OFT, Increase - EMA

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10
Q

Dehydrated Hereditary Stomatocytosis/Hereditary Xeroxytosis

A

Mutation: PEIZO1 gene
Mechanism: Net DECREASED cation - Increased K+, Decreased: Na+ –> Shrinkage
Findongs: Decreased - OFT, EMA

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11
Q

Three major mechanism of Anemia

A

Blood Loss
Impaired red cell production
Accelerated red cell destruction

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12
Q

Three major laboratory findings of Anemia

A

Decreased RBC, Hb, and Hct

Hemoglobin is a more reliable indicator of anemia

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13
Q

Absolute reticulocyte count

A

Determine the mechanism of Anemia

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14
Q

Absolute Reticulocyte Count
* High
* Low

A

Absolute Reticulocyte Count
* High - Excessive RBC loss
* Low - decreased RBC production

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15
Q

Anisochromia

A

Variation in Hemoglobin concentration

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16
Q

Poikilocytosis

A

variation in shape

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17
Q

Anisocytosis

A

variation in size

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18
Q

Microcytic Hypochromic Anemia

A

IDA
most common anemia

Loss or insufficient Fe that results to ineffective Hb production

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19
Q

Cuases - IDA

A

Chronic Blood Loss
Increased Iron utilization
* Pregnancy
* Adolescent growth
Impaired Iron absorption
* Celiac
* Achlorhydria
Parasitic Infection
* Hookworm: N. americanus, A. duodenale
* T. trichiura
* Schistosoma: S. mansonii, S. haematobium

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20
Q

Pathophysiology - IDA
* Stage 1/Pre-latent
* Stage 2/Latent
* Stage 3/Anemia

A

Pathophysiology - IDA
* Stage 1: Storage - Iron depletion (Prelatent)
* Stage 2: Transferrin - Iron deficient eryhthropoiesis (Latent)
* Stage 3: Functional - Anemia

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21
Q

Laboratory Findings - IDA
* RBCs
* Poikilocytes
* Decreased
* Increased

A

Laboratory Findings - IDA

  • RBCs: Microcytic Hypochromic cells
  • Poikilocytes: Target cells, Elliptocytes, Ovalocyte, Dacrocyte
  • Decreased: Reticulocyte count, Serum Iron, Serum Ferritin
  • Increased: RDW, TIBC
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22
Q

70%

A

Functional iron in Hb

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23
Q

PERCENTAGE OF HYPOCHROMIC RED BLOOD CELLS (% HYPO)

A

MOST
SENSITIVE and SPECIFIC parameter of Functional Iron Deficiency.

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24
Q

Soluble transferrin receptor (sTfR):

A

provide **differentiation of IDA from anemia of
chronic inflammation disorders

Increased in IDA, Decreased in ACD

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25
Q

Anemia of Inflammation

A

Anemia of Chronic Disease

Inability to use iron due to low iron absorption with Increased hepcidin

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26
Q

Hepcidin

A

key molecule that regulate (inhibiting) iron absorption by inactivating ferroportin

causing to impaired release of iron in blood circulation

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27
Q

Causes - ACD

A

Infection (TB, Fungal)
Malignancy (MM, Cancer)
Autoimmune (SLE, RA, Sarcoidosis)

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28
Q

Laboratory Findings - ACD
* RBCs:
* Increased:
* Decreased:

A

Laboratory Findings - ACD
* RBCs: normocytic normochromic
* Increased: Storage Iron, Ferritin, ESR
* Decreased: TIBC, Serumn Iron, sTfr

Serum iron is low because recycling of iron from macrophages is impaired

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29
Q

Mechanism - Sideroblastic Anemia

A

Ineffective erythropoiesis due to enzyme deficiency - 5 aminolevulinic acid synthase & uroporphyrinogen decarboxylase, that result to Iron overload

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30
Q

5 amino livulenic acid synthetase & auropophyrinogen decarboxylase

A

Enzyme defciency in Sideroblastic anemia

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31
Q

Lab Findings - Sideroblastic Anemia
* Increased:
* Decreased:

A

Lab Findings - Sideroblastic Anemia
* Increased: Serum Iron, Ferritin
* Decreased:** TIBC**

Differentiated to ACD - Serum Iron

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32
Q

Beta-thalassemia Trait

a.k.a. Minor beta-thalassemia

A

One beta gene deletion with mild anemia

CARRIER STATE

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33
Q

HbA2

A

Increased hemoglobin in beta-thalassemia minor

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34
Q

Beta-thalassemia Minor
* Deletion:
* Anemia:
* Increased hemoglobin

A

Minor beta-thalassemia
* Deletion: 1 beta chain deletion
* Anemia: Mild/Silent
* Increased hemoglobin: HbA2

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35
Q

Mild Cooley’s Anemia

A

Beta-thalassemia intermedia

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36
Q

Beta-thalassemia Intermedia
* Deletion:
* Anemia:
* Lab Findings:

A

Beta-thalassemia Intermedia
* Deletion: Bothe genes are variant
* Anemia: Moderate anemia
* Lab Findings: Microcytosis, Splenomegaly, Low indices, High RDW

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37
Q

Beta thalassemia Major

a.k.a Cooley’s Anemia/Mediterranian Anemia

A

Absence of beta chains with severe anemia

No HbA is produced

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38
Q

HbF (90%)

A

Increased Hb (compensatory) in beta-thalassemia major

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39
Q

Laboratory Findings - Beta thalassemia Major
* RBC:
* Anemia:
* Poikilocytes:
* BM:
* Hb:
* Increased:

A

Laboratory Findings - Beta thalassemia Major
* RBC: Microcytic hypochromic
* Anemia: Severe Anemia
* Poikilocytes: Target cells, teardrop cells
* Inclusions: Basophilic stippling, Howell-Jolly bodies, Papenheimer bodies
* BM: Hypercellular
* Hb: 2-3 mg/dL
* Increased: Serum Iron, Bilirubin

Beta thalassemia major is **transfusion dependent **

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40
Q

4 Classification of a-thalassemia

A
  1. Silent carrier - 1 alpha gene deletion
  2. a-thalassemia minor - 2 alpha gene deletion
  3. Hb H disease - 3 alpha gene deletion
  4. a-thalassemia major - 4 alpha gene deletion
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41
Q

Silent carrier

a.k.a heterozygous alpha thalassemia

A

1 alpha gene deletion without signs and symptoms of anemia

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42
Q

Alpha thalassemia Minor

a.k.a alpha thalassemia trait

A

2 alpha gene deletion with Mild anemia

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43
Q

Thalassemia common in Souteast Asian

A

alpha thalassemia minor

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44
Q

Laboratory findings - Alpha thalassemia Minor/Trait
* RBCs:
* Anemia:
* Hb:
* Low:
* Poikilocytes:

A

Laboratory findings - Alpha thalassemia Minor/Trait
* RBCs: Mild microcytic, hypocheomic
* Anemia: Mild anemia
* Hb: 12-13 g/dL
* Low: MCV, MCH, MCHC
* Poikilocytes: Target cells

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45
Q

HbH disease

A

3 alpha gene deletion with moderate - severe anemia

46
Q

4 beta chains

A

HbH

47
Q

RBC characteristic in HbH Disease

A

Pitted Gold ball

48
Q

Laboratory Findings - HbH Disease
* RBC:
* Anemia:
* Hb:
* Low:

A

Laboratory Findings - HbH Disease
* RBC: Golf-ball appearance
* Anemia: Mild-Severe anemia
* Hb: 7-10 g/dL
* Low: Indices, HbA2 with basophilic stipplingh

49
Q

Alpha thalassemia Major

a.k.a Bart’s Hydrops Fetalis

A

4 alpha gene deletion with severe anemia

No HbA and HbF

50
Q

Predominant hemoglobin in a-thalassemia major

A

Hb Barts
(4 gamma chains)

51
Q

4 gamma chains

A

Hb Barts

52
Q

Inhibited enzymes - Lead Poisoning

A

ALA synthetase
Ferrocheletase

53
Q

Megaloblastic Anemia

Macrocytic normochromic

A

Impaired DNA synthesis that results to slow/abnormal nuclear maturation caused by Vit. B12 and Folate deficiency. Deficiency results to decreased Thymidine production which slows nuclear replication then impairs DNA synthesis.

54
Q

Common Cause of Megaloblastic Anemia

A
  1. Vitamin B12 (Cobalamin) deficiency
  2. Vitamin B9 (Folate) deficiency
55
Q

Most Common Disorder of cobalamin deficiency

A

Pernicious Anemia

56
Q

Laboratory Findings - Megaloblastic Anemia
* RBCs:
* BM:
* Inclusions:
* Increased:

A

Laboratory Findings - Megaloblastic Anemia
* RBCs: Macrocytic normochromic with oval macrocytes & teardrop cell
* Hypersegmented Neutrophils
* BM: Pancytopenia
* Inclusions: Howell-jolly bodies, Cabot rings
* Increased: MCV, LDH

57
Q

Pernicious anemia

A

Autoimmune disease with anti-IF that destroys parietal cells to release IF which blocks binding of IF and cobalamin

58
Q

Detects Pernicious anemia

A

Schiling’s test

59
Q

Aplastic Anemia

A

Bone marrow failure causing pancytopenia in the presence of hypocellular bone marrow.

60
Q

Most common inherited Aplastic Anemia

A

Fanconi Anemia

61
Q

Fanconi Anemia

A

Congenital Aplastic Anemia

All cells are decreased: RBC, WBC, Platelets

62
Q

Fanconi Anemia
* Hematologic Classification:
* Onset:
* BM biopsy:
* BM aspirate:
* PBS:
* Mutation:

A

Fanconi Anemia
* Hematologic Classification: Congenital Aplastic anemia
* Onset: 5 years old
* BM biopsy: Hypoplastic - Aplastic
* BM aspirate: Pancytopenia
* PBS: Pancytopenia
* Mutation: Abnormality in chromosone 9q & 20q

63
Q

Congenital Pure Red cell Aplasia

A

Diamond Blackfan Syndrome/Congenital Hypoplastic Anemia

RBC is only decreased

64
Q

Diamond Blackfan Syndrome
* Hematologic Classification:
* Onset:
* BM biopsy:
* BM aspirate:
* PBS:
* Mutation:

A

Diamond Blackfan Syndrome
* Hematologic Classification: Congenital Pure red cell aplasia
* Onset: <1 yr. old
* BM biopsy: Cellular
* BM aspirate: Decreased RBC erythroid precursors
* PBS: Decreased in RBC only
* Mutation: No chromosomal abnormality

65
Q

Most Common Hereditary Hemolytic Anemia

A

Hereditary Spherocytosis

66
Q

Hereditary Spherocytosis

A

Defect in Vertical support in membrane proteins - spectrin & ankyrin.

Decrease surface-to-volume ratio

67
Q

5 Mutations in HS:
* Cytoskeletal proteins
* Transmembrane proteins

A

Mutations in HS:
* Cytoskeletal proteins: Ankyrin, a-spectrin, b-spectrin, Protein 4.2
* Transmembrane protein: Band 3

68
Q

Hereditary Elliptocytosis/Ovalocytosis

A

Defect in the Horizontal support of membrane proteins and polarization of cholesterol at the end of the cell.

Elliptocyte: - Cigar shape/Pencil shape; Ovalocyte - Egg shape

69
Q

Autosomal Recessive Hereditary Elliptocytosis

A

Hereditary Pyropoikilocytosis

70
Q

Hereditary Stomatocytosis

a.k.a Overhydrated Stomatocytosis

A

Defect in cation membrane permeability with excessive permiability to Na+ and **reduced K+ concentration **which makes the cell to swell that result to stomatocytosis

Increase Na, Decrease K

71
Q

Hereditary Xerocytosis

a.k.a Dehydrated Hereditary Stomatocytosis

A

Defect in cation membrane permeability with excessive permiability to K+ and **reduced Na+ concentration **which makes the cell dehydrated

Increase K+, Decrease Na+

72
Q

Overhydrated Hereditary Stomatocytosis (OHS)
* Mutation:
* RBC:
* Increase (cation):
* Decrease (cation):

A

Overhydrated Hereditary Stomatocytosis (OHS)
* Mutation: RHAG gene
* RBC: Hydrated cell - Swells
* Increase (cation): Sodium - Na
* Decrease (cation): Potassium - K

73
Q

Dehydrated Hereditary Stomatocytosis (DHS)
* Mutation:
* RBC:
* Increase (cation):
* Decrease (cation):

A

Dehydrated Hereditary Stomatocytosis (DHS)
* Mutation: PIEZO1 gene
* RBC: Dehydrated
* Increase (cation): Potassium - K+
* Decrease (cation): Sodium - Na+

74
Q

Hereditary Acanthocytosis

A

Defect on RBC membrane lipid with increased cholesterol due to abetalipoproteinemia

Seen in alcoholic cirrhosis

75
Q

Glucose 6 phosphate dehydrogenase (G6PD)

A

Reduced glutathione decreases NADPH that increase peroxide level and oxidizes hemoglobin to methemogloblobin that denatures hemoglobin producing heinz bodies

Most common enzyme deficiency in HMP

76
Q

Pyruvate Kinase (PK) deficiency

A

Reduced ATP caused by mutation in PKLR gene with impaired cation pump resulting to RBC shrinkage reducing lifespan

Most common enzyme deficiency in EMP

77
Q

Paroxysmal Nocturnal Hemoglobinuria (PNH)

A

Loss of complement inhibition of CD55 and CD59 due to mutation in PIG-A gene that results to *RBCs highly sensitive to complement binding *

78
Q

Paroxysmal Cold Hemoglobinuria
* Mechanism:
* Mutation:
* Test:

A

Paroxysmal Cold Hemoglobinuria

  • Mechanism: Loss of complement inhibition of CD55 & CD59 due to deficiency in glycosylphosphatidylinositol
  • Mutation: Phospatidylinositol Glycan class A
  • Test:
    Sugar water Test (Screening Test)
    Sucrose Hemolysis Test (Confirmatory)
    Flow Cytometry (Gold Standard)
79
Q

SPHEROCYTIC erythrocytes

A

hallmark abnormality in hemolytic anemia

80
Q

Most common Hemogloninopathy

A

Sick Cell anemia

81
Q

Hb SS
* HbS:
* HbA:

Homozygous - Sickle Cell Disease

A

Hb SS
* HbS: 80-100%
* HbA: No HbA

82
Q

Hb SA
* HbS:
* HbA:

Heterozygous - Sickle Cell Trait

A

Hb SA
* HbS: 40%
* HbA: 60%

83
Q

Substitution - Hb S

A

6th position of beta chain from Glutamate - Valine

84
Q

Substitution - Hb C

A

6th position in beta chain from Glutamate - Lysine

85
Q

Substitution - Hb E

A

26th position in beta chain from Glutamate - Lysine

86
Q

Substitution - Hb O

A

**121st position **of beta chain from Glutamate - Lysine

87
Q

Substitution - Hb D

A

**121st position **of beta chain from Glutamate - Glysine

88
Q

Echinocyte

A

evenly spaced round projections (10-12)

a.k.a Burr cell

89
Q

Acanthocyte

A

**unevenly **spaced pointed projection (3-12)

a.k.a** Thorn cell/Spur cell**

90
Q

Codocyte

Increase surface area-to-volume ratio

A

Bull’s eye appearance with central staining area

a.k.a Target cell/Mexican Hat cell

91
Q

Leptocyte

A

thinner variant of Codocyte

92
Q

Dacryocyte

A

Pear shaped cells with one blunt projection

a.k.a Tear drop cell/tennis racket cell

93
Q

Spherocyte

Decrease surface area-to-volume ratio

A

small RBC

a.k.a Bronze cell

94
Q

Elliptocyte/Ovalocyte

Polirization of cholesterol at the end of the cell

A

Cigar shaped (elliptocyte), Egg shaped (ovalocyte)

a.k.a Pencil cell (thinner variant)

95
Q

Stomatocyte

A

Elongated slit-like appearance in the central pallor

a.k.a **Mouth cell **

96
Q

Drepanocyte

A

Crescent shaped and pointed ends

a.k.a Sick cell

97
Q

Schistocyte

A

Fragmented RBCs

a.k.a Bite cell/Helmet cell/Horn cell

98
Q

Schistocyte

A

Fragmented RBCs

a.k.a Bite cell/Helmet cell/Horn cell

99
Q

Causes in Schistocyte

“MUSD”

A

M - Microangiopathic (MAHA)
U - Uremic syndrome
S - Severe burns
D - DIC

Others: Bite Cell - G6PD

100
Q

Causes in Stomatocytes

“RASH”

A

R - Rh null phenotype
A - Alcoholism
S - Severe Liver disease
H - Hereditary Stomatocytosis

101
Q

Caused by Dacryocyte

A

Myelopthisic anemia

102
Q

Causes of Echinocyte

“PUCA”

A

P - PK Deficiency
U - Uremia
C - Cancer of stomach
A - Acute blood loss

causes Artifactual or drying of smear

103
Q

Orthochromic normoblast (Metarubricyte)

A

Commonly seen nucleated RBC

104
Q

RBC Inclusion - DNA remnants

A

Howell-jolly bodies

Seen in: Post-splenomegaly, Hemolytic anemia, megaloblastic anemia

105
Q

RBC Inclusion - RNA remnants

A

Basophilic stippling

106
Q

RBC Inclusions - Iron granules

A

Pappenheimer bodies

107
Q

RBC Inclusion - Cabot Rings

A

Abnormal mitosis with loop of eight shape

Seen in: Megaloblastic anemia

108
Q

RBC inclusion - Hexagonal/Bar of Gold

A

Hb C Crystal

109
Q

RBC inclusion - Washington monument crystals

A

Hb SC Crystal

110
Q

RBC Inclusion - Denatured hemoglobin

A

Heinz bodies

Seen in: G6PD, beta thalassemia major, Hb H disease

Hematology (6 decks)

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