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RBCs Diseases Flashcards

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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
Anemia of Inflammation
Anemia of Chronic Disease | Inability to use iron due to low iron absorption with Increased hepcidin
26
Hepcidin
key molecule that **regulate (inhibiting) iron absorption** by *inactivating ferroportin* | causing to impaired release of iron in blood circulation
27
Causes - ACD
Infection (TB, Fungal) Malignancy (MM, Cancer) Autoimmune (SLE, RA, Sarcoidosis)
28
Laboratory Findings - ACD * RBCs: * Increased: * Decreased:
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
29
Mechanism - Sideroblastic Anemia
Ineffective erythropoiesis due to *enzyme deficiency* - **5 aminolevulinic acid synthase & uroporphyrinogen decarboxylase**, that result to **Iron overload**
30
5 amino livulenic acid synthetase & auropophyrinogen decarboxylase
Enzyme defciency in Sideroblastic anemia
31
Lab Findings - Sideroblastic Anemia * Increased: * Decreased:
Lab Findings - Sideroblastic Anemia * Increased: **Serum Iron, Ferritin** * Decreased:** TIBC** | Differentiated to ACD - **Serum Iron**
32
Beta-thalassemia **Trait** | a.k.a. **Minor** beta-thalassemia
**One** beta gene deletion with **mild** anemia | **CARRIER STATE**
33
HbA2
Increased hemoglobin in beta-thalassemia minor
34
Beta-thalassemia Minor * Deletion: * Anemia: * Increased hemoglobin
Minor beta-thalassemia * Deletion: 1 beta chain deletion * Anemia: Mild/Silent * Increased hemoglobin: HbA2
35
Mild Cooley's Anemia
Beta-thalassemia intermedia
36
Beta-thalassemia Intermedia * Deletion: * Anemia: * Lab Findings:
Beta-thalassemia Intermedia * Deletion: Bothe genes are variant * Anemia: Moderate anemia * Lab Findings: Microcytosis, Splenomegaly, Low indices, High RDW
37
Beta thalassemia Major | a.k.a Cooley's Anemia/Mediterranian Anemia
Absence of beta chains with severe anemia | **No HbA is produced**
38
HbF (90%)
Increased Hb (compensatory) in beta-thalassemia major
39
Laboratory Findings - Beta thalassemia Major * RBC: * Anemia: * Poikilocytes: * BM: * Hb: * Increased:
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 **
40
4 Classification of a-thalassemia
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
41
Silent carrier | a.k.a heterozygous alpha thalassemia
1 alpha gene deletion without signs and symptoms of anemia
42
Alpha thalassemia **Minor** | a.k.a alpha thalassemia trait
**2** alpha gene deletion with **Mild anemia**
43
Thalassemia common in Souteast Asian
alpha thalassemia minor
44
Laboratory findings - Alpha thalassemia Minor/Trait * RBCs: * Anemia: * Hb: * Low: * Poikilocytes:
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
45
HbH disease
3 alpha gene deletion with moderate - severe anemia
46
4 beta chains
HbH
47
RBC characteristic in HbH Disease
Pitted Gold ball
48
Laboratory Findings - HbH Disease * RBC: * Anemia: * Hb: * Low:
Laboratory Findings - HbH Disease * RBC: **Golf-ball appearance** * Anemia: **Mild-Severe anemia** * Hb: **7-10 g/dL** * Low: Indices, HbA2 with basophilic stipplingh
49
Alpha thalassemia **Major** | a.k.a Bart's Hydrops Fetalis
**4** alpha gene deletion with **severe anemia** | No HbA and HbF
50
Predominant hemoglobin in a-thalassemia major
**Hb Barts** (4 gamma chains)
51
4 gamma chains
Hb Barts
52
Inhibited enzymes - Lead Poisoning
ALA synthetase Ferrocheletase
53
Megaloblastic Anemia | Macrocytic normochromic
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
Common Cause of Megaloblastic Anemia
1. Vitamin B12 (Cobalamin) deficiency 2. Vitamin B9 (Folate) deficiency
55
Most Common Disorder of cobalamin deficiency
Pernicious Anemia
56
Laboratory Findings - Megaloblastic Anemia * RBCs: * BM: * Inclusions: * Increased:
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
Pernicious anemia
Autoimmune disease with **anti-IF** that destroys parietal cells to release IF which blocks binding of IF and cobalamin
58
Detects Pernicious anemia
Schiling's test
59
Aplastic Anemia
**Bone marrow failure** causing **pancytopenia** in the presence of **hypocellular** bone marrow.
60
Most common inherited Aplastic Anemia
Fanconi Anemia
61
Fanconi Anemia
Congenital Aplastic Anemia | All cells are decreased: RBC, WBC, Platelets
62
Fanconi Anemia * Hematologic Classification: * Onset: * BM biopsy: * BM aspirate: * PBS: * Mutation:
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
Congenital Pure Red cell Aplasia
Diamond Blackfan Syndrome/Congenital Hypoplastic Anemia | RBC is only decreased
64
Diamond Blackfan Syndrome * Hematologic Classification: * Onset: * BM biopsy: * BM aspirate: * PBS: * Mutation:
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
Most Common Hereditary Hemolytic Anemia
Hereditary Spherocytosis
66
Hereditary Spherocytosis
Defect in **Vertical** support in membrane proteins - **spectrin & ankyrin**. | Decrease surface-to-volume ratio
67
5 Mutations in HS: * Cytoskeletal proteins * Transmembrane proteins
Mutations in HS: * Cytoskeletal proteins: Ankyrin, a-spectrin, b-spectrin, Protein 4.2 * Transmembrane protein: Band 3
68
Hereditary Elliptocytosis/Ovalocytosis
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
Autosomal Recessive Hereditary Elliptocytosis
Hereditary Pyropoikilocytosis
70
Hereditary Stomatocytosis | a.k.a Overhydrated Stomatocytosis
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
Hereditary Xerocytosis | a.k.a Dehydrated Hereditary Stomatocytosis
Defect in *cation membrane permeability* with **excessive permiability to K+** and **reduced Na+ concentration **which makes the cell ***dehydrated*** | Increase K+, Decrease Na+
72
Overhydrated Hereditary Stomatocytosis (OHS) * Mutation: * RBC: * Increase (cation): * Decrease (cation):
Overhydrated Hereditary Stomatocytosis (OHS) * Mutation: **RHAG gene** * RBC: Hydrated cell - Swells * Increase (cation): Sodium - Na * Decrease (cation): Potassium - K
73
Dehydrated Hereditary Stomatocytosis (DHS) * Mutation: * RBC: * Increase (cation): * Decrease (cation):
Dehydrated Hereditary Stomatocytosis (DHS) * Mutation: PIEZO1 gene * RBC: Dehydrated * Increase (cation): Potassium - K+ * Decrease (cation): Sodium - Na+
74
Hereditary Acanthocytosis
Defect on **RBC membrane lipid** with *increased cholesterol* due to **abetalipoproteinemia** | Seen in alcoholic cirrhosis
75
Glucose 6 phosphate dehydrogenase (G6PD)
**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
Pyruvate Kinase (PK) deficiency
**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
Paroxysmal Nocturnal Hemoglobinuria (PNH)
**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
Paroxysmal Cold Hemoglobinuria * Mechanism: * Mutation: * Test:
**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
SPHEROCYTIC erythrocytes
hallmark abnormality in hemolytic anemia
80
Most common Hemogloninopathy
Sick Cell anemia
81
Hb SS * HbS: * HbA: | Homozygous - Sickle Cell Disease
Hb SS * HbS: 80-100% * HbA: No HbA
82
Hb SA * HbS: * HbA: | Heterozygous - Sickle Cell Trait
Hb SA * HbS: 40% * HbA: 60%
83
Substitution - Hb S
**6th position** of beta chain from Glutamate - **Valine**
84
Substitution - Hb C
**6th position** in beta chain from Glutamate - **Lysine**
85
Substitution - Hb E
**26th position** in beta chain from Glutamate - **Lysine**
86
Substitution - Hb O
**121st position **of beta chain from Glutamate - **Lysine**
87
Substitution - Hb D
**121st position **of beta chain from Glutamate - **Glysine**
88
Echinocyte
**evenly** spaced **round** projections *(10-12)* | a.k.a **Burr cell**
89
Acanthocyte
**unevenly **spaced **pointed** projection (3-12) | a.k.a** Thorn cell/Spur cell**
90
Codocyte | **Increase** surface area-to-volume ratio
**Bull's eye appearance** with central staining area | a.k.a Target cell/Mexican Hat cell
91
Leptocyte
thinner variant of Codocyte
92
Dacryocyte
**Pear shaped cells** with one blunt projection | a.k.a **Tear drop cell/tennis racket cell**
93
Spherocyte | **Decrease** surface area-to-volume ratio
small RBC | a.k.a **Bronze cell**
94
Elliptocyte/Ovalocyte | Polirization of cholesterol at the end of the cell
Cigar shaped (elliptocyte), Egg shaped (ovalocyte) | a.k.a **Pencil cell** (thinner variant)
95
Stomatocyte
Elongated **slit-like appearance** in the central pallor | a.k.a **Mouth cell **
96
Drepanocyte
**Crescent shaped** and pointed ends | a.k.a **Sick cell**
97
Schistocyte
Fragmented RBCs | a.k.a **Bite cell/Helmet cell/Horn cell**
98
Schistocyte
Fragmented RBCs | a.k.a **Bite cell/Helmet cell/Horn cell**
99
Causes in **Schistocyte** | "MUSD"
**M - Microangiopathic (MAHA)** U - Uremic syndrome S - Severe burns D - DIC | **Others: Bite Cell - G6PD**
100
Causes in **Stomatocytes** | "RASH"
**R - Rh null phenotype** A - Alcoholism S - Severe Liver disease H - Hereditary Stomatocytosis
101
Caused by **Dacryocyte**
Myelopthisic anemia
102
Causes of **Echinocyte** | "PUCA"
**P - PK Deficiency** U - Uremia C - Cancer of stomach A - Acute blood loss | causes **Artifactual or drying of smear**
103
Orthochromic normoblast (Metarubricyte)
Commonly seen nucleated RBC
104
RBC Inclusion - **DNA remnants**
Howell-jolly bodies | Seen in: **Post-splenomegaly**, Hemolytic anemia, megaloblastic anemia
105
RBC Inclusion - **RNA remnants**
Basophilic stippling
106
RBC Inclusions - **Iron granules**
Pappenheimer bodies
107
RBC Inclusion - **Cabot Rings**
**Abnormal mitosis** with *loop of eight shape* | Seen in: Megaloblastic anemia
108
RBC inclusion - **Hexagonal/Bar of Gold**
Hb C Crystal
109
RBC inclusion - **Washington monument crystals**
Hb SC Crystal
110
RBC Inclusion - **Denatured hemoglobin**
Heinz bodies | Seen in: **G6PD**, beta thalassemia major, Hb H disease

Hematology (6 decks)

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