heme Flashcards

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1
Q

lead poisoning (MOA… leads to… )

A
  • inhibition of both aminolevulinic acid dehydratase (leads to increased precursor) and ferrochelatase (final step in heme synthesis)
  • lead-induced porphyria leads to microcytic (hemoglobin poor) anemia
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2
Q

most common primary cardiac tumor (name and histology, possible complication)

A
  • atrial myxoma
  • amorphous extracellular matrix
  • associated with multiple syncopal episodes
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3
Q

CD4 marker

A

-helper T cells

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4
Q

CD19 marker

A

-B lymphocytes

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5
Q

CD28 marker

A

-helper T cells

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6
Q

CD3 marker

A

-helper T cells

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7
Q

CD16 marker

A

-natural killer cells

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8
Q

CD14 marker

A

-macrophages

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9
Q

G6PD (MOA and inciting drugs)

A
  • glucose-6-phosphatate dehydrogenase important enzyme in hexose monophosphate shunt
  • reduces NADP+ to NADPH, which in turn reduces GSSG to glutathione–> glutathione protects RBC’s against oxidative stress
  • deficiency results in hemolytic anemia
  • common in AA and mediterranean descent
  • primaquine, chloroquine, sulfa, Isoniozid
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10
Q

paroxysmal nocturnal hemoglobinuria (genetic defect, MOA)

A
  • defect in PIG-A gene which produces GPI anchors
  • GPI anchors are necessary to attach complement inhibiting proteins, without which, complement chronically lyses RBCs
  • occurs throughout the day, most concentrated urine in AM
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11
Q

blood smear of macrocytic anemia

A
  • hypersegmented neutrophils

- can distinguish folate from B12 by neuro symptoms (only in B12) and increased MMA (only in B12)

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12
Q

SCID (enzyme deficiency… MOA… tx)

A
  • adenosine deaminase deficiency
  • inability to breakdown purines, buildup of deoxyadenosine triphosphate, which prevents synthesis of other nucleotides
  • toxic to rapidly growing cells such as immune cells
  • tx: bone marrow transplant
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13
Q

CML (genetics… MOA.. tx)

A
  • t(9;22), philly chromosome, creates BCR-ABL fusion protein, constitutively active tyrosine kinase
  • tx: TKI, imatinib (gleevec)
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14
Q

dacryocytes (tear drop cells on smear)

A

-indication of extramedullary hematopoeisis

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15
Q

von Willebrands (what is it, what does it do, lab values, inheritance)

A
  • 2 jobs: protect factor 8 and adhesion of platelets to collagen via glycoproteins
  • increased bleeding time and partial thrombosplatin time
  • NL prothrombin time and NL platelets
  • autosomal dominant
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16
Q

protein C

A

-inactivation of factors V and VIII, deficiency leads to prothrombotic state

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17
Q

DIC (common causes… 2 fold mechanism… lab values… diagnostic test…)

A
  • sepsis or trauma, but most commonly obstetric complications
  • activation of BOTH coagulation cascade and fibrinolytic system, leading to…
  • increased bleeding time, PT and PTT
  • fibrin split products (D-dimer)
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18
Q

Burkitt’s Lymphoma (genetics, path, common symptom)

A
  • t(8;14) resulting in overexpression of c-myc
  • starry sky, field of lymphocytes interrupted by occasional macrophages
  • mass in jaw, and assoc. with EBV
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19
Q

Folate deficiency (physiologic role of folate… what deficiency looks like, who gets it, time course)

A
  • tetrahydrafolate is important in one carbon transfers, crucial for purine synthesis
  • deficiency leads to megaloblastic microcytic anemia without neurological symptoms
  • folate stores deplete quickly (time course of months rather than years in B12)
  • *NL MMA**
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20
Q

taut vs relaxed hemoglobin

A
  • taut, tight, low oxygen, release oxygen, low affinity

- relaxed, lots of oxygen, pick it up and hold onto it, high affinity

21
Q

SLL/CLL vs diffuse large B-cell lymphoma (Path smear and pathogenicity)

A
  • small, still mostly circular lymphocytes on smear
  • Richter’s is a transformation from SLL/CLL to diffuse large cell (about 10% of SLL/CLL) and a smear shows a distinct line of transformation
  • 4-5x larger cells and more disorganized morphology
22
Q

most common cause of hypercoaguable state (and 1 uncommon cause and 3 rare cases)

A
  • factor V leiden
  • prothrombin gene mutation
  • protein s deficiency
  • protein c deficiency
  • antithrombin III deficiency
23
Q

CLL (path smear)

A
  • clonal expansion of b-lymphocytes arrested in development somewhere between pre-b cell and mature b cell
  • results in smudge cells as b cells are not fully mature and break apart during preparation
24
Q

HIT

A
  • heparin induced thrombocytopenia
  • antibodies form against heparin/platelet complex, activates platelets, they all quickly get used up forming lots of clots
  • more likely in people who have been heparinized before
25
Q

1 unit of raises hematocrit by….

A

-3%

26
Q

thrombotic thrombocytopenic purpura (TTP)

A
  • deficient vonWillebrand factor, leads to continual activation of platelets, destroys RBCs, leads to renal insufficiency
  • this damage can lead to renal insufficiency and elevated creatinine
  • NL PT and PTT, clotting factors are OK
27
Q

vitamin K in clotting cascade

A
  • vitamin K assits in carboxylating several clotting factors

- warfarin interferes with this action

28
Q

acute onset cardiac friction rub is an indication of….

A

-uremia, get them some dialysis pronto

29
Q

contraindicated for warfarin

A

-pregnant women

30
Q

hemophagocytic lymphohistiocytosis (HLH)

A
  • constitutional symptoms

- bone marrow aspirate reveals RBC’s engulfed in macrophages

31
Q

multiple myeloma (CRAB)

A
  • hypoCalcemia
  • Renal insufficiency
  • Anemia
  • Bone lesions
32
Q

hairy cell leukemia (negative symptoms, smear, diagnostic test)

A
  • neg for night sweats and fever
  • 4x more common in men, fatigue, fullness, weight loss
  • “hairy cell” on smear
  • TRAP (tartrate resistant acid phosphatase) positive… trap the hairy animal
33
Q

fanconi’s anemia (what is it, why does it happen, what does it cause)

A
  • most common congenital aplastic anemia and important cause of myeloid leukemia in kids
  • defect in DNA repair
  • bifid thumbs, renal dysgenesis, hypogonadism, microcephaly, high fetal hemoglobin
34
Q

carboxylation of glutamic acid residues

A

-role of vitamin K in coag cascade

35
Q

hemorrhagic disease of the newborn (what causes it, what prevents it)

A
  • usually 2-7 days after birth, due to deficiency of vitamin K
  • lacking intestinal flora that makes vitamin K
  • every newborn in HOSPITAL gets vit K intramuscularly after birth
36
Q

schilling test

A

-radiolabled B12–> in NL individuals, absorbed and excreted in urine, so we look for radiolabled B12 in urine, if not there, its not being absorbed (due to lack of intrinsic factor (produced by parietal cells) )

37
Q

TTP-HUS (thrombotic thrombocytopenic purpura and hemolytic uremic syndrome)

A
  • a subtype of MAHA (microangiopathic hemolitic anemia) often idiopathic, sometimes caused by certain drugs bacterial toxins (shiga toxin from E. coli)
  • trifecta of hemolytic anemia, thrombocytopenia and platelet aggregation
  • tx is generally supportive, keeping an eye on fluids, maybe dialysis
38
Q

hemophilia A and B (which cofactors are affected, genetics)

A
  • hemophilia A: factor 8
  • hemophilia B: factor 9
  • both are X-linked recessive
39
Q

PT and PTT measure which cofactors…

A
  • PT: 7… also 10, 5, prothrombin and fibrinogen

- PTT: 8, 9, 11, 12… also 10, 5, prothrombin and fibrinogen

40
Q

hereditary spherocytosis (presentation (triad of symptoms), defect, and tx)

A
  • anemia, splenomegaly, jaundice
  • defect in RBC anchoring proteins: ankyrin, spectrin, band 3
  • tx: splenectomy to cure anemia, sphereocytes persist
41
Q

genetic abnormality in sickle cell disease (HbS)

A

-substitution of valine for glutamic acid at 6th position

42
Q

henoch-schonlein (presentation, and serious complication)

A
  • young boys, palpable purpuric lesions on buttocks and legs, joint pain, fever, malaise
  • acute renal failure w/hematuria and proteinuria
43
Q

post splenectomy, pts are at risk for… (4 pathogens with common trait..bonus, what will you see on smear?)

A
  • encapsulated organisms: neisseria meningitides, strep pneumo, h. influenza, klebsiella pneumo
  • given prophylactic vaccinations
  • howell-jolly bodies, irregular RBCs, and target cells
44
Q

bronze diabetes…

A
  • jaundice and diabetes

- hemochromatosis… leads to end organ damage

45
Q

lymphocyte rich hodgkins lymphoma (smear, epidemiology, prognosis)

A
  • few RS cells (binucleate with inclusion-like nucleoli
  • usually young males
  • decent prognosis
46
Q

mixed cellularity hodgkins (smear, epidemiology, prognosis)

A
  • many RS cells, many lymphocytes (mixed ratio)
  • generally presents in older pts
  • poor prognosis
47
Q

plummer-vinson disease (triad)

A
  • esophageal-cervical web
  • iron deficiency anemia (microcytic hypochromic)
  • glossitis
  • MOA: dysphagia due to web and glossitis prevent proper intake, results in iron deficiency anemia
48
Q

scurvy… (vitamin deficiency, symptoms and pathophys)

A
  • deficient in vit C
  • important in hydroxylating valine and leucine allowing for crosslinks which add structural integrity to collagen
  • bleeding gums, poor wound healing etc
49
Q

sickle cell trait… (common SE)

A
  • much less severe than sickle cell disease, can see some more serious complications at altitude
  • episodic hematuria and polyuria as renal tubules are damaged over time and body is unable to concentrate urine