Exam Flashcards

1
Q

ddx: spherocytes (3)

A

hereditary spherocytosis, G6PDH deficiency, warm/cold AIHA

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2
Q

bite cells

A

G6PDH deficiency

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3
Q

ddx: schistocytes (4)

A

TTP, DIC, HUS, malignant hypertension

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4
Q

treatment for sickle cell anemia; mechanism

A

hydroxyurea; increases levels of HbF

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5
Q

chipmunk facies

A

beta-thalassemia major

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6
Q

which thalassemia: virtually all HbF

A

beta-thalassemia major

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7
Q

which thalassemia: elevated HbA2

A

beta-thalassemia minor/beta-thalassemia trait

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8
Q

which thalassemia: basophilic stippling

A

beta-thalassemia minor

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9
Q

which thalassemia: HbH

A

alpha-thalassemia with 3 alpha genes deleted

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10
Q

inheritance of hereditary spherocytosis

A

autosomal dominant

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11
Q

ddx: aplastic crises caused by parvovirus

A

sickle cell anemia and hereditary spherocytosis

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12
Q

thalassemias: ____vascular hemolysis

A

extra

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13
Q

inheritance of G6PDH deficiency

A

X-linked

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14
Q

Heinz bodies (accumulation of denatured, precipitated hemoglobin)

A

G6PDH deficiency

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15
Q

PNH: mutated gene

A

PIGA

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16
Q

mutation in PIGA causes what mechanism of disease?

A

decreased GPI-linked proteins including anti-complement proteins CD55 and CD59

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17
Q

warm AIHA: Ig__ antibodies, ____vascular hemolysis in _____

A

G, extra, spleen

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18
Q

cold AIHA: Ig__ antibodies, ____vascular hemolysis in _____

A

M, extra (can also be intravascular), liver

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19
Q

hemolytic anemia that happens 2-3 weeks into EBV or Mycoplasma infections

A

acute form of cold AIHA

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20
Q

what in the spleen stains red?

A

blood-filled sinusoids

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21
Q

what in the spleen stains blue?

A

cords of densely packed lymphocytes between sinusoids

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22
Q

RBC infiltrate in post-splenectomy patient

A

Howell Jolly bodies

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23
Q

explain severe vasoconstriction and hypertension in hemolysis

A

free hemoglobin scavenges NO

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24
Q

CD163 scavenger receptor: binds what, where is it expressed

A

haptoglobin-hemoglobin complex; monocyte/macrophage lineage (recycles between early endosomes and the plasma membrane)

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25
what two things happen when haptoglobin's buffering capacity is overwhelmed?
1. hemoglobin converts to metHb, liberating heme | 2. free heme binds to albumin and subsequently transferred to hemopexin
26
heme ring opening is catalyzed by what enzyme and what are the 3 products?
HO-1; bilverdin, CO and iron (iron is bound by ferritin and CO is bound by hemoglobin)
27
bilirubin is ______ than biliverdin
less polar
28
microcytic, hypochromic anemia with pronounced anisopoikiloytosis
iron deficiency anemia
29
TIBC is qualitatively the opposite of what?
serum ferritin
30
iron is absorbed where? what affects this part of the small intestine?
duodenum; Crohn's
31
what molecule is excess iron stored in during iron overload?
hemosiderin
32
hypersegmented neutrophils
megaloblastic anemia
33
macrocytes, macroovalocytes, anisopoikilocytosis
megaloblastic anemia
34
nuclear to cytoplasmic asynchrony in bone marrow
megaloblastic anemia
35
what enzyme in the folate pathway is inhibited by methotrexate?
dihydrofolate reductase (converts folate into TH4)
36
what enzyme in the folate pathway is inhibited by 5-FU?
thymidylate synthetase
37
why does B12 deficiency cause megaloblastic anemia?
B12 is a cofactor for methionine synthase, the only enzyme that can regenerate TH4
38
where is folate absorbed?
jejunum
39
where is B12 absorbed?
ileum
40
mechanism of pernicious anemia
autoantibodies against intrinsic factor, causes B12 deficiency --> megaloblastic anemia
41
what features distinguish B12 deficiency from folate deficiency?
B12 deficiency causes neurologic deficits and will show elevated methylmalonic acid
42
what disorder is caused be defect in MPL gene?
congenital amegakaryocytic thrombocytopenia
43
congenital amegakaryocytic thrombocytopenia: defect in what gene?
MPL
44
inherited bone marrow syndrome causing pancreas and bone marrow deficiency
Schwachman-Diamond syndrome
45
what does eltrombopag do?
thrombopoietin agonist = increases platelets
46
abnormal finger/toenails
dyskeratosis congenita
47
3 effects of telomere diseases
bone marrow failure, liver fibrosis and lung fibrosis
48
which factor activates factor 2 into initial thrombin?
factor 10a
49
what does initial thrombin activate?
Factors 5, 8, 11 and platelets
50
vitamin K dependent factors
Factors 2, 7, 9, 10, Protein C and Protein S
51
antecedent viral syndrome, abrupt onset of severe thrombocytopenia
childhood ITP
52
treatment for refractory ITP
IVIG, prednisone, splenectomy, thrombopoietin agonists, rituximab
53
pentad of TTP
microangiopathic hemolytic anemia, thrombocytopenia, renal failure, mental status changes, fever
54
TTP: mechanism of disease
congenital or acquired autoantibody against ADAMTS13
55
Bernard Soulier syndrome: mechanism of disease
congenital absence of GpIb
56
Glanzman's thrombasthenia: mechanism of disease
congenital absence of GpIIb/IIIa
57
difference between PT and PTT
PT: add tissue factor PTT: add surface activator
58
mechanism of heparin
causes conformational change in antithrombin, accelerating its inhibition of thrombin and Factor 10a
59
Factors not tested by screens
Factor 8, antithrombin, Protein C, Protein S
60
liver disease: what additional factors are deficient on top of those that are vitamin K dependent?
Factor 5 and antithrombin
61
what factors are digested by Protein C?
Factors 5 and 8
62
how does thrombomodulin work?
it is bound to endothelial cell surface, binds thrombin and turns it into an ANTIcoagulant enzyme which then activates Protein C --> inhibits Factors 5 and 8
63
why does Factor 5 Leiden have tendency for venous thrombosis?
impaired cleavage of Factor 5 by Protein C
64
venous and arterial thrombosis, pregnancy complication associated with fetal demise
APLAS (antiphospholipid antibody syndrome)
65
treatment of vWD
desmopressin (synthetic analog of vasopressin; releases vWF from endothelial storage)
66
ddx: decreased fibrinogen
DIC, liver disease
67
ddx: isolated prolonged PTT
hemophilias, APLAS
68
which transfusion-related adverse effects present with hypertension? hypotension?
hypertension: FNHTR, TACO hypotension: TRALI
69
which transfusion-related adverse effects present with fever?
FNHTR, hemolytic transfusion reaction, TRALI
70
red urine after transfusion
hemoglobinuria due to acute hemolytic transfusion reaction (ABO errors)
71
what conditions can cause arterial AND venous thromboses?
heparin-induced thrombocytopenia and APLAS