Anemias Flashcards

1
Q

Iron deficiency affects which stage of heme synthesis

A

final step in heme syntheis

ferrocheletase protoporphyrin to heme

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2
Q
What are the labs that would be seenin iron deficiency anemia
Iron: 
TIBC:
Ferritin:
Erythrocyte protoporhyrin:
RDW:
A
Iron: DEC
TIBC: INC
Ferritin: DEC
Erythrocyte protoporhyrin: INC
RDW: INC
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3
Q

In which populations are the cis and trans alpha thalessemia traits more prevalent

A

Cis: asian populations
trans: african populations

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4
Q

What is seen with 3 deletions of the alpha thal gene

A

Hemoglobin H disease
excess B globin forms B4
Moderate to severe microcytic hypochromic anemia

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5
Q

What is seen with 4 deletions of the alpha thal gene

A

Hemoglobin Barts
Excess y globin forms y4
Hydrops fetalis; incompatible with life

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6
Q

In which population is B thalaseemia mor prevalent and what causes it

A

Point mutations in splice sites and promoter sequences

Prevalent in mediterranean populations

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7
Q

What is the presentation of B thal minor

A

Usually asymptomatic

Inc HbA2 on electrophoresis (>3.5%)

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8
Q

What can be seen with B thal major

A

anisopoikilocytosis requiring blood transfuioions
marrow expansion leading to crew cut xray and chipmunckf faceis
hempatosplenomegaly
inc reisk of parvo aplastic crisis

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9
Q

What occurs with HbS/Bthal hetero

A

mild to moderate sickle cell disease

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10
Q

What effect does lead have on read blood cells (enzymes, byproducts, etc)

A

inhhibits ferrocheletase and ALA dehydratase (DEC heme synth, INC RBC protoporphyrin)
ALso inhibits rRNA degradation (RBC retain aggregates and see basophilic stipling)

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11
Q

What is the first line treatment of lead poisoning in adults and in kids

A

Adults: dimercaprol and EDTA
Kids: Succimer

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12
Q

List 6 symptoms of lead poisoning

A
Lead lines on gingivae/metaphyses of long bones
Encephalopathy
Erythrocyte basophilic stippling
Abdominal colic
Anemia
Drops- wrist and foot drops
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13
Q

What causes sydneroblastic anemia (genetic)

A

x linked defect in ALA synthase gene

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14
Q

What causes syderoblastic anemia (acquired/reversible)

A
acquiered: myelodysplastic syndrome
Reversible:
Alcohol
Lead
B6 deficiency
Copper deficiency
Isoniazid
Chloramphenicol
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15
Q

What are the lab findings of sideroblastic anemia
Iron:
TIBC:
Ferritin:

A

Iron: INC
TIBC: normal/DEC
Ferritin:INC

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16
Q

How do you treat Sideroblastic anemia

A
Pyridoxine B6 
(cofactor for ALA synthase)
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17
Q

What levels are inc in folate deficiency

A

INC homocysteine

Normal Mehtylmalonic acid

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18
Q

What levels are inc in Cobalamin deficiency

A

INC homocysteine

INC methylmalonic acid

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19
Q

How does B12 deficiency cause neurologic issues

A

B12 is involved itn the fatty acid pathways and myelin synthesis
(can also causse reversible dementia)

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20
Q

How is B12 deficiency diagnosed

A

Schilling test

4 stage test to determin if cause is dietary deficiency or malabsorption

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21
Q

What causes Orotic aciduria

A

Inability to convert orotic acid to UMP

Auto recessive defect in UMP SYNTHASE

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22
Q

How does Orotic aciduria present in children

A

failure to thrive, developmental delay, and megalobalastic anemia refractory to folate and B12
NO HYPERAMMONEMIA

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23
Q

How can you differentia orotic aciduria due to UMP synthase and due to ornithine transcarbamylase deficiency

A

UMP synthase: No hyperammonemia

Ornithine transcarbamylase: Hyperammonemia

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24
Q

How do you treat orotic aciduria

A

uridine monphosphate or uridine triacetate to bypass mutated enzyme

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25
Q

What is the difference between megaloblastic and nonmegaloblastic anemia

A

Nonmegaloblastic: no hypersegemented neutrophils DNA synthesis is unimpaired

Megaloblastic: opposite ^

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26
Q

What is the cause of diamond blackfan anemia

A

intrinsic defect in erythroid progenitor cells

27
Q

What is the presentation of diamond blackfan anemia

A

Inc % HbF (but DEC total Hb)
Rapid onset anemia in 1st year of life
Short stature, craniofacial abnormalities, upper extremity malformations (TRIPHALANGEAL THUMBS)

28
Q

Errors/deficiencies in porphobilinogen deaminase would result in what condition

A

Acute intermittent porphyria

29
Q

What are 5 symtptoms of acute imntermittent porphyria

A
Painful abdomen
Portwine colored urine
Polyneuropathy
Psychological disturbances
Preciptated by drugs (p450 inducers), alcohol starvation
30
Q

How would you treat AIP

A

hemin and glucose

they inhibit ALA synthase

31
Q

Errors/deficiencies in Urophyrinogen decarboxylase would cause what condition

A

Porphyria cutanea tarda

32
Q

What is the inheritance of PCT

A

Autosomal dominant

33
Q

What is the inheritance of AIP

A

Autosomal dominant

34
Q

What condition is associated with PCT

A

Hepatitis C

35
Q

What is the most common porphyria

A

PCT

36
Q

What changes the change in urine color with PCT

A

uroporphyrin

37
Q

What substrates are accumulated in AIP and PCT

A

AIP: porphobilinogen, ALA

PCT, Uroporphyrin

38
Q

What enzymes does lead inhibit

A

Ferrochelatase and ALA dehydratase

39
Q

How do symptoms of lead intoxication differ from adults to kids

A

Kids: mental deterioration
Adults: headache, memory loss, demyelination

40
Q

What inhibits ALA Dehydratase vs Synthase

A

Dehydratase: lead
Synthase: x linked sideroblastic anemia

41
Q

What Causes the toxicity behind iron poisoning and how might it happen

A

Cell death due to PEROXIDATION of membrane lipids

accidental ingestion by kids, tablets may look like candy

42
Q

What are the symptomsof iron poisoning

A

N/v
Gastric bleeding
lethargy
scarring leading to GI obstruction

43
Q

What is the inheritance and pathology behind G6PD deficiency

A

X linked recessive

Dec reduced glutathioine; rbc more susceptibnle to oxidant stress

44
Q

What is the pathology and inheritance behind Pyruvate kinase deficiency

A

Autosomal recessive

Dec ATP leads to rigid RBC and extravascular hemolysis

45
Q

What substrate does pyruvate kinase deficiency increase and what is the effect

A

INC 2-3 BPG leading to dec hemoglobin affinity for O2

46
Q

What is the acquired mutation in Paroxysmal nocturnal hemoglobinuria

A

acquired mutation in PIGA gene
decreases synthesis of GPI anchor for DAF/CD55 and MIRL/CD59
(decay accelerating factor and membrane inhibitor of reactive lysis)

47
Q

in what cell is the mutation for paroxysmal nocturnal hemoglobinuria acquired

A

hematopoietic stem cell

48
Q

What is there an increased incidence of with paroxysmal nocturnal hemolobinuria

A

acute leukemias

49
Q

How is PNH treated

A

eculizumab (inhibits terminal complement formation)

Test for CD55/59 on flow cytometry to diagnose

50
Q

What are the characteristics of PNH

A

Triad of: coombs - hemolytic anemia, pancytopenia, venous thrombosis and possibly red or pink urine
usually upon waking

51
Q

What type of crisis can be associated with sickle cell

A

dactylitis, priapism, acute chest syndrome, avascular necrosis, stroke

52
Q

With regards to the kidney what is sickle cell associated with

A

Cells sickle in the renal medulla (DUE TO DEC PO2) leading to RENAL PAPILLARY NECROSIS and microhematoruia

53
Q

What conditions can be associated with the crew cut on xray

A

sickle cell and thalassemias

54
Q

Warm autoimmune hemolytic anemia is caused by what antibody

A

IgG

55
Q

Cold autoimmune hemolytic anemia is caused by what antibody

A

IgM

56
Q

What can cause Warm autoimmune anemia

A

SLE
CLL
Certain drugs (eg a methyl dopa)
idiopathic

57
Q

What can cause Cold autoimmune anemia

A
Mycoplasma pneumoniae
CLL
Cold
Infectious mono
idiopathic
58
Q

What anemia is Coombs - vs +

A

+: autoimmune hemolytic anemia

-: Paroxysmal nocturnal hemoglobinuria (others as well but yeah)

59
Q

What is Coritcosterioids effect on:
neutrophils:
Eosinophils
Lymphocytes

A

Neutrophilia: due to dec activation of adhesion molecules impairing migration out of vasculature

Eosinopenia: beceause they are sequestered in lymph nodes

Lymphopenia: because they cause apoptosis of lympocytes

60
Q

What is a leukoerythroblastic reaction

A

left shift of immature RBC; occurs with severe anemia or marrow response

61
Q
Iron Studies of: Iron deficiency
Serum Iron:
Transferrin/TIBC:
Ferritin:
% transferrin saturation (serum iron/TIBC):
A

Serum Iron: DEC (primary)
Transferrin/TIBC: INC
Ferritin: DEC
% trans Sat : DECDEC

62
Q
Iron Studies of: Chronic Disease
Serum Iron:
Transferrin/TIBC:
Ferritin:
% transferrin saturation (serum iron/TIBC):
A

Serum Iron: DEC
Transferrin/TIBC: DEC
Ferritin: INC (primary)
% trans Sat : -

63
Q
Iron Studies of: Hemochromatosis
Serum Iron:
Transferrin/TIBC:
Ferritin:
% transferrin saturation (serum iron/TIBC):
A

Serum Iron: INC (primary)
Transferrin/TIBC: DEC
Ferritin: INC
% trans Sat: INCINC

64
Q
Iron Studies of: Pregnancy/OCP use
Serum Iron:
Transferrin/TIBC:
Ferritin:
% transferrin saturation (serum iron/TIBC):
A

Serum Iron: -
Transferrin/TIBC: INC (primary)
Ferritin: -
% trans Sat : DE