Genes for H&L Final

Question 1

ELA-2 or ELANE

Answer 1

Severe congenital neutropenia

Question 2

ELA-2 or ELANE

Answer 2

Cyclic neutropenia

Question 3

SBDS gene

Answer 3

Schwachman-Diamond syndrome

Question 4

LFA-1 and Sialyl Lewis X (L-selectin)

Answer 4

Leukocyte Adhesion Deficiency

Question 5

WASP gene

Answer 5

Wiskott-Aldrich

Question 6

T(8;14) and T(8:22)

Answer 6

Burkitt

Question 7

chromosome 11p13

Answer 7

WAGR

Question 8

WT1

Answer 8

Denys Drash

Question 9

WT2

Answer 9

Beckwith-Wiedmann

Question 10

CD13, CD33, MPO+

Answer 10

AML

Question 11

T(15;17)

Answer 11

APL

Question 12

CD19, CD5, CD23

Answer 12

CLL

Question 13

cyclin D1, CD5, CD23-

Answer 13

Mantle cell lymphoma

Question 14

T(11;18), (1;14), (14;18)

Answer 14

Marginal gastric lymphoma with translocation

Question 15

GCSF3

Answer 15

Hereditary neutrophilia

Question 16

Lamin B receptor

Answer 16

Pelger Huet anomaly

Question 17

GATA-1

Answer 17

Transient Myeloproliferative Disorder

Question 18

CSF-3

Answer 18

Chronic Neutrophilic Leukemia

Question 19

DARC (Duffy Antigen)

Answer 19

Ethnic and Benign Familial Neutropenia

Question 20

Shortened telomeres

Answer 20

DKC

Question 21

defective CXCR4

Answer 21

Myelokathexis

Question 22

LYST

Answer 22

Chediak-Higashi

Question 23

RAB27A

Answer 23

Griscelli syndrome

Question 24

AP3B1

Answer 24

hermansky-pudiak

Question 25

TAZ

Answer 25

Barth syndrome

Question 26

ENG, ALK1, SMAD4

Answer 26

Hereditary Hemorrhagic Telengiectasia

Question 27

G1691A

Answer 27

Factor V Leiden

Question 28

G20210A

Answer 28

Prothrombin Mutation

Question 29

PF4

Answer 29

HIT syndrome

Question 30

platelet antigen P1A1

Answer 30

post-transfusion purpura

Question 31

JAK2

Answer 31

ET and PCV

Question 32

glycoprotein IIb/IIIa

Answer 32

Glanzmann Thrombasthenia

Question 33

glycoprotein Ib/IX

Answer 33

Bernard-Soulier

Question 34

alpha granules

Answer 34

Gray Platelet

Question 35

INV(16) and Trisomy 8

Answer 35

MDS

Question 36

Mono IgM, Mono IgG, or Poly IgG

Answer 36

cryoglobulinemia

Question 37

TMPRSS6

Answer 37

Hereditary iron deficiency

Question 38

nRAMP2

Answer 38

acquired form of iron deficiency

Question 39

CD55, CD59

Answer 39

PNH

Question 40

PBG deaminase/HMBS

Answer 40

acute intermittent porphyria

Question 41

UROD (uroporphyrinogen deaminase)

Answer 41

porphyria cutanea tarda

Question 42

Treatment for ALL

Answer 42

Vincristine + prednisone

Question 43

Treatment for AML

Answer 43

3 + 7 chemo: 3 days anthracycline, 7 days Ara-C

Question 44

Gene for worse prognosis of CML

Answer 44

T315I

Question 45

Treatment for ALK T cell leukemia

Answer 45

CHOP + radiation

Question 46

CIAS1

Answer 46

Familial cold urticaria

Question 47

Treatment for hemophilia

Answer 47

Desmopressin

Question 48

Treatment for von Willebrand disease?

Answer 48

Desmopressin

Question 49

Treatment of HHT

Answer 49

Surgery and laser photoablation

Question 50

Treatment for ET

Answer 50

Hydroxyurea

Question 51

Treatment for high risk MDS

Answer 51

Azacitadine

Question 52

Treatment for smoldering myeloma

Answer 52

Lenalidomide and dexamethasone

Question 53

Where do you see rouleaux formations?

Answer 53

Waldenstrom and multiple myeloma

Question 54

Laryngeal hoarseness + bilateral carpal tunnel = ?

Answer 54

Amyloidosis

Question 55

Treatment for PNH?

Answer 55

Eculizumab

Question 56

What can chloramphenicol cause?

Answer 56

Aplastic anemia

Question 57

Treatment for AIP

Answer 57

Analgesics and glucose + hematin

Question 58

Treatment for porphyria cutanea,tarda?

Answer 58

Phlebotomy, chloroquine, deferasirox

Question 59

Treatment for PCV.

Answer 59

Myelosuppression with anagrelide and PEG-IFN