L7 Bleeding Disorders And Thrombis Disorders

Question 1

Defecte in what factors leading to a bleedinf disorders ???

Answer 1

• vWF
• gbIb
• gbIIb

Question 2

What is the exact role of vWF after exposing the sub-endothelial layer ????

Answer 2

vWF binds to collagen-4 in the basement membrane of
the subendothelium and with GP1b surface receptor on the
platelets.

Question 3

What gonna happene o the platelets after the adherance to the site of injury.

Answer 3

platelets are enlarged and activated to produce

various aggregating substances such as Ca, ADP and Serotonin.

Question 4

Bernard-Soulier Syndrome) due to

Answer 4

Genetic Defect in the GP1b Gene

Question 5

What are the types of Genetic Defect in the GP1b Gene that leads to bleeding disorder

Answer 5

Point mutations: Missense, Frame-shift & Nonsense

Question 6

Bernard-Soulier Syndrome is a ..
1- Autosomal Recessive
2- Autosomal dominant
3- x-linked ressesive

Answer 6

1

Question 7

Glanzmann Disease or Thromboasthenia due to

Answer 7

Genetic Defect in the GPIIb

Question 8

GPIIb present as a…. only on activated platelelts

Answer 8

heterodimer GPIIb-GPIIIa

Question 9

GPIIb belongs to the… which is integrin

Answer 9

αIIb-β3

Question 10

GPIIb normally is a receptor for ….

Answer 10

Fibrinogen,

vWF, and Fibronectin

Question 11

is the most abundant receptor for platelet aggregation

Answer 11

GPIIb

Question 12

Glanzmann Disease Mutations are

Answer 12

Missense, Deletions & Rearrangement

Question 13

Glanzmann Disease is
1- Autosomal Recessive
2- Autosomal dominant
3- x-linked ressesive

Answer 13

1

Question 14

If there is a defect in ADAMTS13 what is gonnahappene???

Answer 14

Increased vWF in Serum leads to Thrombophilia

Question 15

What is gonna happen if the GPIb in the VWF domain got mutated but the result is Enhanced Platelet Adhesion???

Answer 15

Thrombocytopenia

Question 16

Complete Absence of vWF in Type-3 vWD is
1- Autosomal Recessive
2- Autosomal dominant
3- x-linked ressesive

Answer 16

1

Question 17

vWF Deficiency in Type-1 vWD is due to
1- Autosomal Recessive
2- Autosomal dominant
3- x-linked ressesive

Answer 17

2

Question 18

All types of Qualitative vWD are ….
1- Autosomal Recessive
2- Autosomal dominant
3- x-linked ressesive

Answer 18

2

Question 19

Hemophilia A is Caused due to Mutations in

Answer 19

FVIII Gene

Question 20

Hemophilia A is
1- Autosomal Recessive
2- Autosomal dominant
3- x-linked ressesive

Answer 20

3

Question 21

Types of Mutations in the FVIII Gene in hemophilia A are

Answer 21

Deletion
Substitutions
Additions
Rearrangement

Question 22

Gene Rearrangement Inactivates the FVIII Gene in hemophelia A leads to

Answer 22

Complete Deficiency & Severe Symptoms

Question 23

Hemophilia B is Caused Due to Mutations

Answer 23

FIX Gene

Question 24

….. is the Christmas Disease
1- Hemophilia B
2- Hemophilia A
3- Hemophilia C

Answer 24

Hemophilia B

Question 25

What is the less common gene mutation in the Hemophilia B

Answer 25

large deletions

Question 26

Hemophilia B is 1- Autosomal Recessive 2- Autosomal dominant 3- x-linked ressesive

Answer 26

3

Question 27

Hemophilia C is Caused due to Mutations in

Answer 27

FXI Gene

Question 28

......most common in some ethnic group e.g. Ashkenazi jews 1-Hemophilia C 2-Hemophilia B 3- Hemophilia A

Answer 28

1

Question 29

Hemophilia C is 1- Autosomal Recessive 2- Autosomal dominant 3- x-linked ressesive

Answer 29

Autosomal dominant

Question 30

Thrombus Growth is Reversed by

Answer 30

1. Antiplatelet Activity 2. Fibrinolysis, 3. Inhibition of Coagulation

Question 31

Antithrombin or Antithrombin III (AT-III) is a Serine Protease Inhibitor

Answer 31

T

Question 32

Antithrombin III Synthesized by

Answer 32

Endothelium

Question 33

Antithrombin III is a Natural Anticoagulant

Answer 33

T

Question 34

Antithrombin III is Activated by

Answer 34

Heparansulfate

Question 35

Mutations in Antithrombin Gene Increases the risk of DVT

Answer 35

T

Question 36

Protein C is a serine protease | Protein ‘S’ is a cofactor

Answer 36

T

Question 37

The commenest cause of Protein C mutations are

Answer 37

Missense

Question 38

Activated C together with Protein S inactivates

Answer 38

Va & VIIIa

Question 39

Most Common Cause of | Thrombophilia

Answer 39

Factor V Leiden

Question 40

is the Most | Common Mutation in Factor V Leiden

Answer 40

Arg506Gln

Question 41

Factor V Leiden is 1- Autosomal Recessive 2- Autosomal dominant 3- x-linked ressesive

Answer 41

Autosomal Incomplete Dominace | GOT YAAAAAA

Question 42

Prothrombin is a Precursor of Thrombin

Answer 42

T

Question 43

Prothrombin is a vitamin ...dependent protein 1-d 2-k 3-b

Answer 43

K

Question 44

Prothrombin Synthesized in 1- liver 2- kidny 3- BM

Answer 44

1