Anemia Flashcards

1
Q

5 physiologic factors in Hb level

A

age
sex (M higher) / puberty (higher w testosterone)
altitude (higher)
genetics (African less)

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2
Q

Anemia DDx by micro/normomacro-cytic

A

Microcytic: thal, chr dis, IDA, lead, sideroblastic
Normocytic: blood loss, suppression/BMF, hemolysis, splenic sequestration, CKD
Macrocytic: megaloblastic, BMFS, drugs, hypothyroid, liver, T21

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3
Q

define MCV, RDW, MCHC and role in thal vs IDA

A

MCV: mean corpuscular volume; diameter of cells
RDW: red cell distribution width; variability in cell volume
MCHC: mean corpuscular Hb concentration; cell density

MCV low in both, MCHC low in both
RDW high in IDA

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4
Q

reasons for false high/low Hb on automated counter

A

high: dehydration, lipemia, leukocytosis, nRBC, prolonged tourniquet

low: clotting, overfilled tube, dilutional, agglutinin, hemolysis

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5
Q

5 steps of iron metabolism

A

ferrireductase Fe3+ to 2+
DMT1 transports across duodenal epithelium
Ferroportin exports across membrane
Hephaestin Fe 2+ to Fe 3+
Transferrin bound for transport in blood

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6
Q

iron deficiency ddx

A

diet: excessive cows milk, low fe (vegan)
blood loss: GI, menorrhagia
malabsorption: Celiac, IBD, gastric bypass, antacid therapy, tannins, metal (Co, Pb)
Poor stores: pregnancy, infancy/prem, inflammation
Inadequate presentation: atransferrinemia, anti-transferrin receptor Ab
IRIDA mutation (TMPRSS6)

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7
Q

IV Fe indications

A

CKD
PO intolerance/ineffective
need rapid response
malabsorption
IRIDA

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8
Q

Fe supplementation recovery timeline

A

1-2w: retic
1mo: Hb
1-3mo: MCV/RDW
3mo: ferritin

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9
Q

Physiologic Hb nadir etiology

A

decline of g chains
drop in EPO due to higher O2 concentrations

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10
Q

High iron foods

A

Meat: beef, liver, fish
legumes: chick peas, black beans, lentils
leafy greens: spinach, broccoli
tofu
fortified infant formula/cereals

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11
Q

IDA smear findings

A

hypochromic microcytic anemia
anisopoikilocytosis
reticulocytopenia
thrombocytosis
pencil cells

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12
Q

IDA non-heme S/S

A

impaired immunity
neurocognitive
nail changes
pica
glossitis
restless leg

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13
Q

hemochromatosis genetics

A

aut rec

homeostatic iron regulator (HFE) most common mutation (C282Y > H63D)
Juvenile: hepcidin (HAMP), hemojuvelin (HJV)
Adult: transferrin receptor 2 (TFR2), ferroportin (FPN1)

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14
Q

B12 deficiency DDx

A

diet: vegan/veg
Pernicious anemia (IF deficiency)
competition: tapeworm, blind intestinal loop
Decreased receptors: ileal resection, IBD, Celiac, H pylori
Imerslung-Grasbeck Syndrome (aut rec B12 malabsorption)

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15
Q

Imerslung-Grasbeck Syndrome

A

aut rec
B12 deficiency
Lack of IF binding

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16
Q

Intravascular vs extravascular hemolysis DDx

A

intravascular:
- enzymopathy: G6PD, PKD
- Cold AIHA: PCH, CAD
- MAHA: TMA, DIC, HUS/TTP, artificial heart valve, Kasabach Merritt

Extravascular:
- warm AIHA
- HDN
- membranopathy: HS, HE, Rh null, xerocytosis
- Hbopathies: SCD, thal, unstable Hb
- toxin, infection, burn
- Wilson

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17
Q

hemolytic anemia smear findings

A

normocytic anemia
reticulocytosis
schistocytes
basophilic stippling
Howell-Jolly bodies
Heinz bodies

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18
Q

Heinz bodies: define and DDx

A

precipitated denatured Hb

G6PD
unstable Hb
hemolysis
oxidant drugs

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19
Q

Howell-Jolly Body: define and DDx

A

nuclear remnant - larger than pappenheimer

thal
hypo/asplenia
hemolysis
megaloblastic anemia

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20
Q

Basophilic stippling: define and DDx

A

ribosomal/residual RNA remnants

thal
SCD
lead
sideroblastic
megaloblastic

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21
Q

Pappenheimer: define and DDx

A

1-2 irregular small granules of iron deposits

thal
sideroblastic
megaloblastic
hemolysis
post splenectomy

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22
Q

HS lab findings

A

spherocytes
elevated RDW, MCHC
extravascular hemolysis
reticulocytosis

EMA flow cytometry
elevated osmotic fragility

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23
Q

HS genetics

A

vertical interactions

aut dom: ankyrin, Band 3, b spectrin
aut rec: a spectrin, protein 4.2

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24
Q

HE genetics

A

horizontal interactions
aut dom
Spectrin or band 4.1

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25
Q

what is pyropoikilocytosis

A

subtype of HE
aut rec spectrin abnormalities
smear with bizarre shapes

26
Q

Hereditary Stomatocytosis: DDx and subtypes

A

DDx: artifact, hereditary, ethanol, Rh null, Tangier, drugs

Overhydrated
- aut dom stomatin or band 7.2 mutations
- low MCHC, positive osmotic fragility

Xerocytosis
- aut dom PIEZO1 or KCNN4 mutations
- high MCHC, decreased osmotic fragility

27
Q

G6PD deficiency pathophys and genetics

A

G6PD generates NADPH, which protects against oxidative injury

X linked

28
Q

G6PD deficiency triggers

A

fava beans
drugs: Vit C, sulpha, dapsone, methylene blue, rasburicase, nitrofurantoin
infection

29
Q

describe direct and indirect Coombs

A

DAT: anti-human IgG binds to RBC-bound IgG –> ?agglutination

indirect: donor RBC and reagant added to serum –> ?agglutination

30
Q

what is positive in warm vs cold AIHA

A

Warm: IgG +- C3 ; 70% bispecific
CAD: C3 (IgM or anti-I/i)
PCH: C3 (IgG, anti-P) -> Donath Landsteiner test

31
Q

Microangiopathic anemia ddx

A

DIC
HUS
TTP
TMA
Kasabach-Merrit
mechanical heart valve
Inf, burn, drugs

32
Q

warm AIHA etiol and tx

A

Primary (50%)
Secondary
- immune: evans, SLE, thyroiditis, hepatitis, Graves, T1DM
- immunodeficiency
- ALPS
- malig, infection, drugs

steroid, transfusions
- 2nd line: IVIG, ritux, splenectomy

33
Q

CAD etiol and tx

A

Mycoplasma (anti-I)
EBV (anti-i)

supportive
plasmapheresis

34
Q

which are extravascular vs intravascular?
PCH
CAD
PNH
warm AIHA

A

Extravascular: warm AIHA and CAD

Intravascular: PCH and PNH

35
Q

PCH etiol and tx

A

anti-P

Donath Landsteiner positive

supportive

36
Q

PNH etiol, dx, tx

A

clonal X linked PIG-A gene (PG1 protein)

CD 55/59 negative

Eculizumab
HSCT

37
Q

Polycythemia ddx

A

relative: dehydration, smoking

Primary:
- EPO-R activating mutation (aut dom)
- PCV (JAK2 mutation)
- congenital methemoglobinemia
- high O2 affinity Hb

Secondary (elevated EPO)
- hypoxia: altitude, OSA, obesity
- renal artery stenosis
- tumors: RCC, HCC, pheo, etc
- exogenous EPO: steroid, NO
- toxin: CO, smoking
- neonatal: IDM, eclampsia, IUGR, T21, TTTS

38
Q

Polycythemia Tx

A

observation
phlebotomy
symptomatic -> ASA
JAK2 mutation -> HU

39
Q

spherocyte DDx

A

HS
AIHA
MAHA
thermal injury
liver disease
clostridial sepsis
HDFN
hypersplenism
severe hypophosphatemia

40
Q

TTP pentad

A

fever
MAHA
thrombocytopenia
renal dysfunction
neurologic changes

41
Q

TTP pathophysiology and tx

A

lack of ADAMTS13
ultralarge VWF multimers present
fibrin deposition and plt trapping
microangiopathy

pulse MP
ritux
FFP
plasmapheresis x 5d course
caplacizumab

42
Q

Upshaw-Schulman Syndrome

A

congenital ADAMTS13 deficiency, aut rec

43
Q

high suspicion of FA, chromosome breakage negative. Next step

A

skin fibroblast culture

44
Q

neonatal hyperbili DDx

A

HDFN (Rh > ABO)
Sepsis
dehydration
G6PD
HS
Crigler-Najjar

45
Q

main iron absorption regulator

A

hepcidin
created in liver

decreases absorption by inhibiting ferroportin from transporting Fe out of duodenal epithelium and macrophages

46
Q

What is IRIDA

A

Iron refractory IDA
TMPRSS6 mutation (aut rec)
hepcidin upregulation (i.e. decreased absorption)

47
Q

megaloblastic anemia BM findings

A

nuclear-cytoplasmic dys-synchrony in erythroid precursors
hypercellular
giant metamyelocytes

48
Q

difference in presentation b/w B12 and folate deficiencies

A

B12: neuro findings
- posterior column degeneration: proprioceptive, fine motor, ataxia, psychomotor retardation, seizures, depression, psychosis

49
Q

Lab differentiation of B12 and folate deficiencies

A

Homocysteine elevation in both
MMA elevation in B12 only

50
Q

Evan’s Syndrome dx, tx

A

any combo of ITP, AIHA, autoimmune neutropenia with chronic remitting/relapsing course

CS +- IVIG
2nd line: ritux, CSA, MMF, VCR, danazol, splenectomy

51
Q

warm AIHA tx

A

steroid pulse –> pred 1-2 mg/kg/d x 2-4w –> taper over 3-12mo

2nd line: IVIG (40% response), ritux (90% CR), splenectomy (2/3 partial response)

52
Q

Associated anemia:
- anti-P
- anti-I
- anti-i

A

anti-P: PCH
anti-I: Mycoplasma CAD
anti-i: EBV CAD

53
Q

define Donath Landsteiner

A

DL Ab: IgG biphasic hemolysin that binds RBC and fixes complement at low temp, but only causes hemolysis near 37C

54
Q

PCH tx

A

self-limiting
supportive: avoid cold

55
Q

CAD tx

A

self-limiting
supportive: avoid cold
plasmapheresis if severe

56
Q

HDFN prevention

A

RhIg to Rh neg mothers given at 28w, delivery, post invasive procedure

57
Q

horizontal vs vertical membranopathy

A

horizontal: HE (E lines are horizontal)
vertical: HS (S goes from top to bottom)

58
Q

SE Asian Ovalocytosis epi, pathophys, ix

A

Melanesia, Malaysia, Indonesia, Philippines

aut dom band 3 deletion

theta cells sens/spec 94/99%
low EMA

59
Q

examples of unstable Hb

A

Hb Koln: high O2 affinity
Hb Zurich: increased CO affinity
Hb Poole: unstable g chain
Hb Hammersmith: unstable b chain with low O2 affinity

60
Q

TTP px

A

mortality 80% w/o therapy
mortality 10-20%
relapse rate 20-30%

61
Q

HUS triad

A

MAHA
thrombocytopenia
renal dysfunction

62
Q

HUS Ix

A

intravascular hemolysis with schistocytes
mild-mod thrombocytopenia
normal INR, PTT, fibrinogen
ADAMTS13 normal