Genes for H&L Final Flashcards by Michelle Amit | Brainscape

Q

ELA-2 or ELANE

A

Severe congenital neutropenia

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Q

ELA-2 or ELANE

A

Cyclic neutropenia

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Q

SBDS gene

A

Schwachman-Diamond syndrome

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Q

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

A

Leukocyte Adhesion Deficiency

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Q

WASP gene

A

Wiskott-Aldrich

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Q

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

A

Burkitt

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Q

chromosome 11p13

A

WAGR

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Q

WT1

A

Denys Drash

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Q

WT2

A

Beckwith-Wiedmann

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Q

CD13, CD33, MPO+

A

AML

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Q

T(15;17)

A

APL

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Q

CD19, CD5, CD23

A

CLL

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Q

cyclin D1, CD5, CD23-

A

Mantle cell lymphoma

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Q

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

A

Marginal gastric lymphoma with translocation

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Q

GCSF3

A

Hereditary neutrophilia

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Q

Lamin B receptor

A

Pelger Huet anomaly

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Q

GATA-1

A

Transient Myeloproliferative Disorder

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Q

CSF-3

A

Chronic Neutrophilic Leukemia

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Q

DARC (Duffy Antigen)

A

Ethnic and Benign Familial Neutropenia

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Q

Shortened telomeres

A

DKC

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Q

defective CXCR4

A

Myelokathexis

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Q

LYST

A

Chediak-Higashi

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Q

RAB27A

A

Griscelli syndrome

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Q

AP3B1

A

hermansky-pudiak

Q

TAZ

A

Barth syndrome

Q

ENG, ALK1, SMAD4

A

Hereditary Hemorrhagic Telengiectasia

Q

G1691A

A

Factor V Leiden

Q

G20210A

A

Prothrombin Mutation

Q

PF4

A

HIT syndrome

Q

platelet antigen P1A1

A

post-transfusion purpura

Q

JAK2

A

ET and PCV

Q

glycoprotein IIb/IIIa

A

Glanzmann Thrombasthenia

Q

glycoprotein Ib/IX

A

Bernard-Soulier

Q

alpha granules

A

Gray Platelet

Q

INV(16) and Trisomy 8

A

MDS

Q

Mono IgM, Mono IgG, or Poly IgG

A

cryoglobulinemia

Q

TMPRSS6

A

Hereditary iron deficiency

Q

nRAMP2

A

acquired form of iron deficiency

Q

CD55, CD59

A

PNH

Q

PBG deaminase/HMBS

A

acute intermittent porphyria

Q

UROD (uroporphyrinogen deaminase)

A

porphyria cutanea tarda

Q

Treatment for ALL

A

Vincristine + prednisone

Q

Treatment for AML

A

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

Q

Gene for worse prognosis of CML

A

T315I

Q

Treatment for ALK T cell leukemia

A

CHOP + radiation

Q

CIAS1

A

Familial cold urticaria

Q

Treatment for hemophilia

A

Desmopressin

Q

Treatment for von Willebrand disease?

A

Desmopressin

Q

Treatment of HHT

A

Surgery and laser photoablation

Q

Treatment for ET

A

Hydroxyurea

Q

Treatment for high risk MDS

A

Azacitadine

Q

Treatment for smoldering myeloma

A

Lenalidomide and dexamethasone

Q

Where do you see rouleaux formations?

A

Waldenstrom and multiple myeloma

Q

Laryngeal hoarseness + bilateral carpal tunnel = ?

A

Amyloidosis

Q

Treatment for PNH?

A

Eculizumab

Q

What can chloramphenicol cause?

A

Aplastic anemia

Q

Treatment for AIP

A

Analgesics and glucose + hematin

Q

Treatment for porphyria cutanea,tarda?

A

Phlebotomy, chloroquine, deferasirox

Q

Treatment for PCV.

A

Myelosuppression with anagrelide and PEG-IFN