Pre-4: Qualitative Disorders of Platelets

Question 1

Optical Platelet Aggregometry

Sample:

Answer 1

PRP

Question 2

Optical Platelet Aggregometry

Principle

Answer 2

Light Transmittance

Question 3

Whole Blood Aggregometry:

Sample

Answer 3

Whole blood

Question 4

Whole Blood Aggregometry:

Principle

Answer 4

Electrical impedance

Question 5

Platelet Lumi Aggregometry:

Sample

Answer 5

Both WB & PRP

Question 6

Platelet Lumi Aggregometry:

Principle

Answer 6

Chemiluminescence

Question 7

As platelets aggregates form, more light passes through the PRP and the tracing begins to move toward 100% light transmittance.

Answer 7

Optical Platelet Aggregometry

Question 8

As Platelet aggregate, platelets collect on the electrodes impeding the current. The change is amplified and recorded.

Answer 8

Whole Blood Aggregometry

Question 9

Reagent added in Platelet Lumi Aggregometry

Answer 9

Luciferin-luciferase enzyme

Question 10

Biphasic Curve agonists:

Answer 10

Thrombin
ADP
Epinephrine

Question 11

Monophasic Curve agonists:

Answer 11

Collagen
Arachidonic acid
Ristocetin

Question 12

RECEPTORS of Thrombin

Answer 12

PAR-1, PAR4;
GPIba & GPVI

Question 13

Receptors of ADP

Answer 13

P2Y1 & P2Y12

Question 14

Receptors of Epinephrine

Answer 14

A2- Adrenergic receptor

Question 15

Receptors of Collagen

Answer 15

GPIa/GPIIa & GPVI

Question 16

Receptors of Arachidonic acid

Answer 16

TPa and TPb

Question 17

Receptors of Ristocetin

Answer 17

GPIb/IX/V with vWF

Question 18

GP Ib/IX/V complex is missing ‘

Answer 18

Bernard-Soulier Syndrome (Giant Platelet Syndrome)

Question 19

Inability to bind to vWF accounts for the inability of platelet to adhere to exposed sub endothelium and results to the bleeding characteristics

Answer 19

Bernard-Soulier Syndrome (Giant Platelet Syndrome)

Question 20

Laboratory feature: Giant Platelets

Answer 20

Bernard-Soulier Syndrome (Giant Platelet Syndrome)

Question 21

Aggregometry: No aggregation to Ristocetin

Answer 21

Bernard-Soulier Syndrome (Giant Platelet Syndrome)

Question 22

Deficiency/abnormality of GPIIb/IIIa

Answer 22

Glanzmann Thrombasthenia

Question 23

Dense Granule Deficiency

Answer 23

1. Hermansky-Pudlak Syndrome
2. Chediak-Higashi Syndrome
3. Wiskot-Aldrich Syndrome
4. Thrombocytopenia Absent Radius (TAR) Syndrome

Question 24

Alpha Granule Deficiency

Answer 24

Gray Platelet Syndrome

Question 25

Chromosome 19 mutation

Answer 25

Hermansky-Pudlak Syndrome

Question 26

Hallmark: Swiss-chess platelets (marked dilation)

Answer 26

Hermansky-Pudlak Syndrome

Question 27

Mutations in Chromosome 1

Answer 27

Chediak-Higashi Syndrome

Question 28

Giant lysosomal granules

Answer 28

Chediak-Higashi Syndrome

Question 29

X-linked disease

Answer 29

Wiskot-Aldrich Syndrome

Question 30

Mutations in the WAS gene on the short arm of the X chromosome (Xp11.23)

Answer 30

Wiskot-Aldrich Syndrome

Question 31

Hallmark: TORCH infections

Answer 31

Wiskot-Aldrich Syndrome

Question 32

Congenital absence of radial bones

Answer 32

Thrombocytopenia with Absent Radius Syndrome (TAR)

Question 33

Cardiac and skeletal abnormalities

Answer 33

Thrombocytopenia with Absent Radius Syndrome (TAR)

Question 34

Structural defects of platelet dense granules

Answer 34

Thrombocytopenia with Absent Radius Syndrome (TAR)

Question 35

Gray appearance in platelets in Wright’s stain

Answer 35

GRAY PLATELET SYNDROME

Question 36

Characterized by: Large platelets

Answer 36

GRAY PLATELET SYNDROME

Question 37

Mutations in the NBEAL2 gene (614169) on chromosome 3p21

Answer 37

GRAY PLATELET SYNDROME

Question 38

The specific absence of morphologically recognizable alpha granules

Answer 38

GRAY PLATELET SYNDROME

Question 39

Increased levels of Platelet factor 4 and B-thromboglobulin in the plasma

Answer 39

GRAY PLATELET SYNDROME

Question 40

A rare disorder in which both alpha and dense granules are deficient

Answer 40

Alpha-Dense Storage Pool Deficiency

Question 41

Autosomal dominant bleeding disorder which results to a deficiency in multimerin

Answer 41

Quebec Platelet Disorder

Question 42

a multimeric protein that is stored complexed with factor V in the alpha granules of platelets

Answer 42

Multimerin