from questions

Question 1

phenotype HbEE

Answer 1

mild, microcytosis, asymptomatic

Question 2

acute ischemic stroke in HBSS step 1 and 2

Answer 2

step 1- transfuse to Hgb 10 then 2- exchange to sub 20% SS

Question 3

goal for chronic transfusions in HbSS

Answer 3

hemoglobin of 9 and sickle hemoglobin less than 30

Question 4

abnormal TCD in HbSS define

Answer 4

more than 200 cm/sec in MCA or internal carotid

Question 5

2 age peaks of stroke in HbSS

Answer 5

agte 2-3 and then 40-49

Question 6

when to start TCD screens in HbSS

Answer 6

age 2

Question 7

what are risks in hyper hemolytic HbSS phenotype

Answer 7

leg ulcers, stroke, proteinuria, gallstones, pHN, priapism

Question 8

what is missing and how to treat neonatal purpura fulminans

Answer 8

missing proton C or S, give FFP

Question 9

x linked thrombocytopenia that looks like beta that is what

Answer 9

GATA1

Question 10

heme finding in babies with CF missing vitamin E

Answer 10

hemolytic anemia

Question 11

how often to prophy for severe hemophilia A

Answer 11

q4 weeks

Question 12

1BU inhibits what amount of residual factor activity

Answer 12

50%

Question 13

what level of BU can you overcome with high doses of factor

Answer 13

LOW (<5)

Question 14

CONTACT FACTOR DEFICIENCY ASSOCIATED WITH BLEEDING PHENOTYPE

Answer 14

FXI

Question 15

definition of type 2 VWD

Answer 15

activity/antigen is <0.7

Question 16

which type 2 VWD has normal multimers and decreased factor 8 activity with values below the VWF antigen levels

Answer 16

2n

Question 17

which type 2 VWD has low plt

Answer 17

2B

Question 18

what is the problem in type 2N VWD

Answer 18

binding to factor 8

Question 19

what plt problem can be inherited with WAAS

Answer 19

dense granule deficiency

Question 20

list some acquired causes of platelet dense granule deficiency

Answer 20

lupus, leukemia, MEDS< MPN

Question 21

most common cause of pseudothrombocytopenia

Answer 21

EDTA

Question 22

most common cause of acquired fibrinogen problems

Answer 22

liver disease

Question 23

SPONTANEOUS INTRACRANIAL BLEEDING AND UMBLIICAL STUMP BLEEDING- WHAT FACTOR

Answer 23

xiii

Question 24

what test measures fibrinogen activity

Answer 24

THROMBIN TIME

Question 25

2 disorders of big platelets that are low in count

Answer 25

bernard soulier, grey platelet

Question 26

3 platelet defects with normal platelet size

Answer 26

TAR, glanzmans, hermansky pudlack

Question 27

dohle body in a neutrophil and something wrong with plt

Answer 27

MYH9

Question 28

deaf, low plt, renal disease, and or cataracts

Answer 28

MYH9

Question 29

low plt, cows milk intolerance, absent radii, normal thumbs

Answer 29

tar

Question 30

most common cause of sideroblastic anemia and inheritance

Answer 30

congenital X linked from mutation in ALAS2. risk of iron overload, microcytic anemia

Question 31

prophy minimum in CGD

Answer 31

bactrim, itraconazole

Question 32

younger than 1 year old, microcytic anemia, elevated HbF, low retic count. suspected dx and test?

Answer 32

DBA- get erythrocyte ADA activity (will be elevated)

Question 33

most sensitive blood cells to radiation

Answer 33

lymphocytes

Question 34

2 inherited syndromes to associate with hepatoblastoma

Answer 34

Li Fraumeni, Gardner

Question 35

what is fetal hydantoin syndrome

Answer 35

phenytoin exposure in utero. low set ears, small, microcephaly. risk for leukemia, lymphoma, and neuroblastoma

Question 36

3 most common HLA DR negative leukemias

Answer 36

T cell ALL, AMKL, APML

Question 37

increased risk of what in neuro-cardio-facial-cutaneous syndromes

Answer 37

JMML- this is a RAS opathy

Question 38

how much do you dose reduce oral mercaptopurine if homozygous TPMT polymorphism

Answer 38

90%

Question 39

lowest risk GVHD in HLA mismatch is which HLA

Answer 39

HLA DQB1

Question 40

rare form of scid with hearing loss and severe neutropenia

Answer 40

reticular dysgenesis

Question 41

key IHC marker in LCH

Answer 41

CD1a with birbeck granules (CD207) and S100 stains