Ch. 14 Distinguishing Features

Question 1

What mutations may be seen in Hereditary Spherocytosis

Answer 1

Ankyrin
Band 3, 4.2
Spectrin

Question 2

What mutation is seen in Sickle Cell Disease

Answer 2

Point mutation in 6th codon of ß-globin

Glu replaced by Val

Question 3

The a-globin chains of Hgb is coded for on what chrom

Answer 3

Chrom 16

Question 4

The ß–globin chains of Hgb is coded for on what chrom

Answer 4

Chrom 11

Question 5

What category of mutations cause ß-Thalassemias

Answer 5

Point mutations

Question 6

What category of mutations causes a-Thalassemias

Answer 6

Gene deletions

Question 7

What genotypes may be found in ß-Thalassemia major

Answer 7

ß+/ß+
ß+/ßo
ßo/ßo

Question 8

What genotypes may be found in ß-Thalassemia minor/trait

Answer 8

ß+/ß

ßo/ß

Question 9

What is the difference between the two version of a-Thalassemia trait

Answer 9

-/- or a/a –> Asia, Sx’s

a/- or -/a –> Africa, aSx

Question 10

How many genes are deleted in HbH a-Thalassemia

Answer 10

3 genes

Question 11

What mutation is Paroxysmal Nocturnal hemoglobinuria associated with

Answer 11

Phosphatidylinositol Glycan complementation Group A (PIGA)

Question 12

What markers are PNH blood cells deficient in and which is most important

Answer 12

CD55
CD59 –> most important
C8

Question 13

Which Ig is associated with Warm Ab-Type Immunohemolytic Anemia

Answer 13

IgG

Question 14

Which Ig is associated with Cold Agglutinin Type Immunohemolytic Anemia

Answer 14

IgM

Question 15

Which Ig is associated with Cold Hemolysin Type Immunohemolytic Anemia a

Answer 15

IgG

Question 16

Inflammasome mutations are associated with which type of anemia

Answer 16

Pernicious (Vitamin B12 deficiency) anemia

Question 17

What mutation is associated with Fe Deficiency Anemia

Answer 17

TMPRSS6

Question 18

Which IL stimulates hepatic production of hepcidin

Answer 18

IL-6

Question 19

Activation of which type of cells is responsible for Aplastic Anemia

Answer 19

Th1

Question 20

2˚ Polycythemia may be d/t what 3 causes

Answer 20

Hypoxia
EPO-secreting tumor
HIF-1a mutation - stimulates EPO transcription

Question 21

Prothrombin Time (PT) measures which pathways of coagulation

Answer 21

Extrinsic and common

Question 22

Partial Thromboplastin Time (PTT) measures which pathways of coagulation

Answer 22

Intrinsic and common

Question 23

What Ig Abs are associated with Chronic Immune Thrombocytopenic Purpura (ITP)

Answer 23

IgG against GPIIb-IIIa or Ib-Ix

Question 24

What are the PT and PTT in Chronic Immune Thrombocytopenic Purpura (ITP)

Answer 24

Normal

Question 25

What mutation is associated with Thrombotic Thrombocytopenic Purpura (TPP)

Answer 25

ADAMTS13 (vWF Metalloprotease)

Question 26

What is Typical HUS associated with

Answer 26

E. Coli 0157;H7

Question 27

What is Atypical HUS associated with

Answer 27

Complement defects

Question 28

What syndrome is associated with platelet dysfunction from defective adhesion

Answer 28

Bernard-Soulier

Question 29

What is associated with platelet dysfunction from defective aggregation

Answer 29

Glanzmann Thrombasthenia (AR)

Question 30

What is the PTT for the different types of vWF disease

Answer 30

Type 1 and 3 –> prolonged

Question 31

Type 2 vWF disease is d/t…

Answer 31

defective multimer assembly

Question 32

What is the PTT for Hemophilia A and B

Answer 32

Prolonged PTT

Question 33

Which Ig Abs are triggered in Allergic Reactions during transfusions

Answer 33

IgG

Question 34

Which Ig Abs are triggered in Hemolytic Reactions during transfusions

Answer 34

IgM

Question 35

Which Ig Abs are triggered in Delayed Hemolytic Reactions during transfusions

Answer 35

IgG

Question 36

In Transfusion-Related Acute Lung Injury, Abs bind to…

Answer 36

MHC type 1