ANEMIA CAUSED BY INCREASE DESTRUCTION OF RBCS

Question 1

• Commonly inherited as an autosomal dominant trait
• Defects in proteins that disrupt the vertical interactions between transmembrane proteins and the underlying protein cytoskeleton.

Answer 1

Hereditary Spherocytosis

Question 2

Hereditary Spherocytosis:
Loss of ______ attached to RBC cytoskeleton
_____surface area-to-volume ratio

Answer 2

lipid membrane
Decrease

Question 3

Hereditary Spherocytosis:
3 Clinical Manifestations:

Answer 3

• Anemia
• Jaundice
• Splenomegaly

Question 4

Hereditary Spherocytosis distinguished from immune-related hemolytic anemia thru _____

Answer 4

DAT

Question 5

Hereditary Spherocytosis:
Lab Findings:
- Uniform ____ on PBS
- MCHC _____
- ___ Osmotic Fragility Test (OFT)

Answer 5

Spherocytes
High (>36%)
Increase result in Osmotic Fragility Test (OFT)

Question 6

Hereditary Spherocytosis:
Hemolysis at ___

Answer 6

> 0.45% NaCl

Question 7

Traditional test method for H.S

Answer 7

Osmotic Fragility Test (OFT)

Question 8

Hereditary Spherocytosis:
Specimen:

Answer 8

Heparinized blood

Question 9

Hereditary Spherocytosis:
Reagent:

Answer 9

Different concentrations of NaCl Solutions (0.85% to 0%)

Question 10

Hereditary Spherocytosis:
OFT Normal Results:
Initial hemolysis at ____
Complete hemolysis at ____

Answer 10

0.45% NaCl
0.35% NaCl

Question 11

Hereditary Spherocytosis:
Incubating the blood at 37C for ____ before performing the test (Incubated OFT) allows HS cells to become more ___ and is often needed to detect mild cases

Answer 11

25 hours
spherical

Question 12

Has been proposed as a more sensitive alternative for confirmation of H.S.

Answer 12

Eosin-5’ – maleimide binding test (EMA)

Question 13

Eosin-5’ – maleimide binding test (EMA)
PRINCIPLE:

Answer 13

Flow Cytometry

Question 14

Eosin-5’ – maleimide binding test (EMA):
EMA results with H.S

Answer 14

Lower

Question 15

Gene mutation that disrupts horizontal RBC cytoskeleton

Answer 15

Hereditary Elliptocytosis

Question 16

Elliptocytosis can also be seen in patients with the Leach phenotype who lack ______

Answer 16

Gerbich antigens

Question 17

___ is the null/absent phenotype under the Gerbich Blood group system

Answer 17

Leach phenotype

Question 18

Majority of patients with HE are ________, and only about __% have moderate to severe anemia

Answer 18

asymptomatic
10

Question 19

RBCs show some degree of a low thermal stability (fragments at 45C)

Answer 19

Hereditary Pyropoikilocytosis

Question 20

Hereditary Elliptocytosis:
Observed in individuals who lack _______ on their RBC membrane

Answer 20

Glycophorin C

Question 21

Condition caused by a mutation in the gene for band 3
= increased rigidity of the membrane and resistance to invasion by malaria.

Answer 21

Hereditary Ovalocytosis / Southeast Asian Ovalocytosis

Question 22

Hereditary Ovalocytosis / Southeast Asian Ovalocytosis:
Condition caused by a mutation in the gene for ____ that results in increased rigidity of the membrane and resistance to invasion by ____

Answer 22

band 3
malaria

Question 23

Hereditary Stomatocytosis:
Major categories:
Defect in membrane cation permeability (Na, K), resulting in a net increase in the intracellular cation concentration. More water enters the
cell causing swelling.

Answer 23

Overhydrated HS (Hereditary hydrocytosis)

Question 24

Hereditary Stomatocytosis:
Major categories:
- Most common form of stomatocytosis
- Defect in membrane cation permeability, resulting in a reduced intracellular cation concentration.
- Water is lost from the cell.

Answer 24

Dehydrated HS (Hereditary xerocytosis)

Question 25

Group of rare inherited disorders characterized by neurologic impairment and acanthocytes on the peripheral blood film

Answer 25

Neuroacanthocytosis

Question 26

Neuroacanthocytosis
3 disorders included are:

Answer 26

Abetalipoproteinemia
Mcleod syndrome
Chorea acanthocytosis

Question 27

LDL deficiency

Answer 27

Abetalipoproteinemia

Question 28

weak expression of Kell ag

Answer 28

Mcleod syndrome

Question 29

Rare chronic intravascular hemolytic anemia caused by an acquired clonal HSC mutation

Answer 29

Paroxysmal Nocturnal Hemoglobinuria (PNH)

Question 30

Paroxysmal Nocturnal Hemoglobinuria (PNH)
Results to blood cells which lack ____

Answer 30

glycosylphosphatidylinositol (GPI)-anchored
proteins

Question 31

Paroxysmal Nocturnal Hemoglobinuria (PNH)
DAF- decay accelerating factor

Answer 31

CD55

Question 32

Paroxysmal Nocturnal Hemoglobinuria (PNH)
MIRL- membrane inhibitor of reactive lysis

Answer 32

CD59

Question 33

• Most common RBC enzyme defect (5% of the global population)
• Inability to generate sufficient NADPH to reduce glutathione

Answer 33

G-6PD Deficiency

Question 34

G-6PD Deficiency:
Inability to generate sufficient _____ to reduce ____

Answer 34

NADPH
glutathione

Question 35

____ is needed to detoxify peroxides and protect red cells from oxidative stress

Answer 35

Glutathione

Question 36

G-6PD Deficiency:
Clinical findings:

Answer 36

Acute hemolytic anemia
Neonatal jaundice
Favism (severe hemolytic episode upon ingestion of Fava beans)

Question 37

G-6PD Deficiency:
Lab findings:
H______
_____ cells on PBS

Answer 37

Heinz bodies
Bite cells

Question 38

G-6PD Deficiency:
Screening tests:

Answer 38

Ascorbate Cyanide Test
Fluorescent Spot Test

Question 39

Gold standard in detection of G-6PD Deficiency

Answer 39

Quantitative spectrophotometric assay

Question 40

G-6PD Deficiency
Quantitative spectrophotometric assay
Specimen:

Answer 40

Heparinized or EDTA-whole blood

Question 41

causes the formation of bite cells

Answer 41

Splenic pitting

Question 42

Under what pathway is G6PD deficiency

Answer 42

Hexose monophosphate pathway/Pentose Phosphate Pathway (PPP)

Question 43

Autosomal recessive disorder; most common form of hereditary nonspherocytic hemolytic anemia

Answer 43

Pyruvate Kinase Deficiency

Question 44

Pyruvate Kinase Deficiency:
Causes _____ of cellular ATP, which affects the ability of the cell to maintain its shape

Answer 44

depletion

Question 45

Pyruvate Kinase Deficiency:
Clinical findings:

_____ anemia
______bilirubinemia
Splenomegaly

Answer 45

Neonatal anemia
Hyperbilirubinemia

Question 46

Pyruvate Kinase Deficiency:
Lab work-up:
______ PK assay on RBC ________

Answer 46

Quantitative
Hemolysate

Question 47

Pyruvate Kinase Deficiency:
Quantitative PK assay on RBC hemolysate:
The rate of NAD formation is proportional to PK activity and is measured as a decrease in absorbance at ____ nm

Answer 47

340

Question 48

Under what pathway is Pyruvate Kinase deficiency

Answer 48

Embden Meyerhof pathway