Hematology

Question 1

What does thrombin time test?

Answer 1

Assesses presence and function of fibrinogen

Question 2

Factor XII deficiency

Answer 2

Elevated PTT, but no bleeding symptoms

Question 3

Vit K factors

Answer 3

2, 7, 9, 10 and protein S/C

Question 4

Timing of vit K def bleeding

Answer 4

Early = first 24hrs, classical = 2-7 days, Late = 1-6 months out

Question 5

Shortest t1/2 factor

Answer 5

7

Question 6

vWD type 1

Answer 6

Quantitative defect

Question 7

vWD type 2A

Answer 7

Loss of large multimers

Question 8

vWD type 2B

Answer 8

Gain of function, vWF too adherent to platelets

Question 9

vWD type 2M

Answer 9

Loss of function, vWF does not bind well to platelets

Question 10

vWD type 2N

Answer 10

vWF cannot bind to factor VIII

Question 11

vWD type 3

Answer 11

Only AR one! Complete quantitative defect

Question 12

Factors high in newborns (most low)

Answer 12

vWF and F8

Question 13

Factors normal in newborns (most low)

Answer 13

fibrinogen or factor 8 (sometimes)

Question 14

Factor with longest t1/2

Answer 14

Factor XIII = 10 days

Question 15

Molecular basis of hemophilia A - severe

Answer 15

intron 22 inversion

Question 16

Molecular basis of hemophilia A - mild/mod

Answer 16

point mutations in the factor VIII coding sequence

Question 17

Molecular basis of hemophilia B - severe

Answer 17

small/large deletions

Question 18

Molecular basis of hemophilia B - mild/mod

Answer 18

missense mutations

Question 19

ICH factor repletion

Answer 19

100% for 2 weeks

Question 20

joint bleed repletion

Answer 20

40-60% for 1-3 doses

Question 21

surgery repletion

Answer 21

100% pre-op, and troughs > 50% until risk of bleeding is over

Question 22

Most likely type of mutation to develop an inhibitor

Answer 22

large deletion

Question 23

Fibrinogen def special feature

Answer 23

splenic rupture

Question 24

factor XI def special feature

Answer 24

most pts don’t bleed, common in Ashkenazi Jews

Question 25

Hepcidin effect

Answer 25

blocks iron absorption

Question 26

IRIDA mutation

Answer 26

AR; TMPRSS6 gene (upregulates hepcidin)

Question 27

Hereditary hemochromatosis gene

Answer 27

HFE C282Y (usually need to be homozygous)

Question 28

Folate absorption location

Answer 28

duodenum and jejunum

Question 29

Vit B12 absorption location

Answer 29

terminal ileum

Question 30

Imerslund-Grasbeck syndrome

Answer 30

AR, inability of IF/B12 to bind in terminal ileum

Question 31

Right shift on O2 curve (decrease O2 affinity)

Answer 31

Increased temp, 2,3-DPG, pCO2 and H+

Question 32

HS defect

Answer 32

vertical interactions, AD, ankyrin

Question 33

Hereditary elliptocytosis gene/defect

Answer 33

SPTA/SPTB, defect in horizontal interactions

Question 34

HPP inheritance

Answer 34

AR HE

Question 35

Hereditary stomatocytosis genes

Answer 35

RHAG - decreased MCHC; KCCN4 or PIEZO1 - increased MCHC

Question 36

Glucose Phosphate Isomerase Def special feature

Answer 36

neurologic impairment

Question 37

Triosephosphate Isomerase special features

Answer 37

progressive neurologic deficits, cardiomyopathy and increased risk of infections

Question 38

Hgb M variants (AD) causes

Answer 38

Methemoglobinemia (so does NADH MetHgb reductase def, AR)

Question 39

Ig form of paroxysmal cold hemoglobinuria

Answer 39

IgG (Donath Landsteiner Ab); binds when cold, fixes complement when warm

Question 40

PNH mutation

Answer 40

PIG-A (lack of GPI linked proteins, CD55/59)

Question 41

NAIT in Asians

Answer 41

HPA-4/5

Question 42

NAIT in Caucasians

Answer 42

HPA-1/5/3

Question 43

X-linked thrombocytopenia gene

Answer 43

WASP - microthrombocytopenia w/o eczema or immunodef

Question 44

MYH9-related disorder features

Answer 44

AD, Dohle bodies in PMNs, macrothrombocytopenia with renal failure, sensorineural hearing loss and cataracts

Question 45

Glanzmann’s defect

Answer 45

GP IIb/IIIa

Question 46

Bernard-Soulier defect

Answer 46

GP Ib/IX (CD42)

Question 47

Gray plt syndrome gene

Answer 47

NBEAL2