platelets

Question 1

congenitla chromosome problems that are assoiated with low plt

Answer 1

trisomy 13 18 21 and triploidy

Question 2

metabolic dz ass with low plt

Answer 2

propioniacidemia, MM acidemia

Question 3

when does neonatal allo and autoimmune thrombocytopenia present

Answer 3

<72 hours

Question 4

what do you need to diagnose neonatal alloiummune thrombocytopenia

Answer 4

suspect in plt <50k. Need anti platelet alloaB in mom and document fetomaternal incompatibility.

Question 5

plt threshold for neonatal alloimmune

Answer 5

below 30k

Question 6

how to help mom in future pregnancies if neonataal alloimmune thrombocytopenia

Answer 6

IVIG and or daily steroids

Question 7

treatment neonatal alloimmune thrombocytopenia

Answer 7

if bleeding, IVIG x 2 doses. plt nadir at day 3-4, improve by day 7

Question 8

disease where maternal antibody impcats baby plt function

Answer 8

NAIT- binds BP2B3a

Question 9

treatment- low plt in baby with maternal ITP

Answer 9

IVIG if bleeding

Question 10

who has different metabolism for eltrombopeg

Answer 10

SE asian descent

Question 11

mechanism- low plt with heparin

Answer 11

immune complex formation

Question 12

mechanism- low plt with penicillin

Answer 12

hapten - drug binds plt surface

Question 13

WAS- gene and inheritance

Answer 13

X linked, WAS gene

Question 14

congenital plt disorder with SMALL plt

Answer 14

WAS

Question 15

how to diagnose WAS

Answer 15

genes and then you can flow for the surface glycoprotein CD43

Question 16

2 diagnostic things for MYH9 disorders

Answer 16

gene testing and leukocytes with inclusions (dohle bodies)

Question 17

MYH9 related disorders- besides low plt, what are the other findings (3)

Answer 17

sensorineural hearing loss, renal failure, cataracts

Question 18

phenotype- TAR syndrome

Answer 18

low plt, gastritis, cows milk intolerance, cardiac and renal issues . elevated TPO levels

Question 19

DiGeorge/Velocardiofacial
Syndrom- inheitance, gene

Answer 19

AD, 22q11

Question 20

phenotype- DiGeorge/Velocardiofacial
Syndrom

Answer 20

cleft palate, cardiac defects, learning disabilities. associated with heterozygous Bernard soulier, low plt

Question 21

Jacobson syndrome- Paris trousseau - inheritance, gene

Answer 21

AD, 11q23

Question 22

Jacobson syndrome- Paris trousseau phenotype

Answer 22

congenital heart disease,
developmental delay, facial
dysmorphisms, and short
stature
Large platelet alpha
granules, low plt

Question 23

what is ANKRD-26 related thrombocytopenia

Answer 23

low plt, high WBC, high RBC, risk of malignancy d

Question 24

two disorders of inherited platelet function with big size of platelets

Answer 24

glanzmans, Bernard soulier

Question 25

two plt function disorders with normal plt count

Answer 25

glanzmans, hermansy pudlack

Question 26

prolonged collagen/epi and prolonged collagen/ADP in PFT-- what to think

Answer 26

maybe platelet defect of VWD

Question 27

glansmanz- problem, inheritance and gene, presentation

Answer 27

deficiency or absence of plt membrane fibrinogen receptor (GP2B/3a). autosomal recessive, ITGA2B or ITGB3, severe mucocutaneous bleeding starting in infancy

Question 28

how to make the diagnosis- Glanzmans

Answer 28

platelet aggregation, flow cytometry, and geenetics

Question 29

what do you see on flow with GLanzmans

Answer 29

decreased CD41 and CD61

Question 30

bernard soulier- problem, inheritance and gene, presentation

Answer 30

abnormal or absent vWF receptor on plt (aka Gp Ib/IX complex aka CD42). autosomal recessive-- GP1BA, GP1BB, or GP9utaneous bleeding in infancy, mile to moderate BIG plt

Question 31

how to make the diagnosis- Bernard soulir

Answer 31

plt aggregation, for cytometry, genetics. Decreaed CD42a and 42b on flow

Question 32

what does Bernard soulier loo like on plt aggregation studies

Answer 32

lack of response ONLY to ristocetin

Question 33

what does glanzmans look ike on plt aggregation

Answer 33

lack of response to all agonists except ristcetin

Question 34

alpha granules are absent in what disease

Answer 34

grey platelet

Question 35

dense granules are absent in what

Answer 35

storage diseases, hermansky padlock, chediak higashi

Question 36

dense granule storage pool disorders- what do you see on plt aggregation

Answer 36

Primary aggregation only with ADP with lack of secondary wave suggesting a failure of granule release or a deficiency of platelet granules`

Question 37

gray plt syndrome- gene and inheriteance

Answer 37

AR, NBEAL2

Question 38

2 key associations for gray plt syndrome

Answer 38

myelofibrosis and splenomegaly (in addition to big low plt)

Question 39

hermansky padlock features

Answer 39

oculocutaneous albinism and nystagmusi

Question 40

inheritnace- hermansky padlock

Answer 40

autosomal recessive

Question 41

solid tumor that can cause reactive thrombocytosis

Answer 41

hepatoblastoma