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Pathology > Heme > Flashcards

Heme Flashcards

1
Q

What runs on each lane?

A
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2
Q

What runs on each lane?

A
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3
Q

What runs on each lane?

A
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4
Q

What runs on each lane?

A
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5
Q

What shifts the oxygen dissociation curve to the right? Left? What does it mean?

A
  • Right: More oxygen to the tissue
    • Fever
    • Acidosis
    • Increased 2,3 DPG
    • Low affinity Hb
  • Left: Less oxygen to the tissue
    • High affnity Hb
    • Hypothermia
    • Alkalosis
    • Decreased 2,3 DPG
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6
Q

What conditions increase the osmotic fragility? Decrease?

A
  • Increase (Pts curve to the right)
    • Hereditary spherocytosis, elliptocytoisis, pyropoikilocytosis
  • Decrease (Pts curve to the left)
    • aplha and beta thalassemia
    • Sickle cell disease
    • Hemoglobin C

Anything that increases the SA of RBC will make it more fragile and decrease the SA wil make is less fragile.

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7
Q

Name the AMLs with recurrent genetic abnormalities (4)

A

t(8;21) (Favorable)

i16 (Favorable)

t(15;17) (Favorable)

t(9;11) (intermediate)

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8
Q

Which AML with reccurent geneitic abnormality has positive CD19?

A

t(8;21)

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9
Q

Which AML with reccurent geneitic abnormality has the highest rate of KIT mutation in replasped cases?

A

t(8;21)

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10
Q

Which AML with reccurent geneitic abnormality has large granules and auer rods?

A

t(8;21)

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11
Q

Which AML with reccurent geneitic abnormality has abnormal eos?

A

i16

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12
Q

Eos in AML with i16 stain with?

A

alpha naphthyl acetate esterase

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13
Q

Which AML with reccurent geneitic abnormality is negative for HLA-DR and CD34?

A

t(15;17)

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14
Q

Which AML with reccurent geneitic abnormality has a monoblastic differentiation and has a poor/intermediate prognosis?

A

t(9;11)

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15
Q

Whats the criteria for RAEB 2?

Blood:

BM:

A

Blood: 5-19 % BLASTS

BM: 10-19% BLASTS

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16
Q

Name the MD/MPN

A

CMML

aCML

JMML

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17
Q

Which MD/MPN has hepatosplenomaegaly, anemia, thrombocytopenia, marrow dysplasia and absolute monocytosis of >1x109 /L

A

CMML

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18
Q

JAK 2 V617F seen most freq in?

A

PV

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19
Q

Blueberry muffin babies refers to?

A

Congenital acute leukemia

(AML vast majority is monocytic/monoblastic befor the age of 4 weeks)

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20
Q

Expression of CD25 in systemic mastocytosis correlates with?

A

CKIT mutation

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21
Q

MCV=?

A

MCV = HCT x 10/RBC

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22
Q

Chloroacetate esterase stains?

A

aka Leder stain

granulocytic cells

mast cells

abnormal eos

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23
Q

bcl-1 aka

A

cyclin D1

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24
Q

CD4

A

Helper T

monocytes

histiocytes

dendritic cells

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25
Q

whats FMC 7?

A

ab against a particular epitope of CD20

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26
Q

Markers for Megs?

A

CD41 and CD61

GPIIb/IIIa complex

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27
Q

Name the genetic assoc

CML

BL

CLL/SLL

FL

MCL

MALT

LPL

ALCL

MDS

A

CML t(9;22) BCR/ABL

BL t(8;14) cMyc/IgH

CLL/SLL del 13q, 11q, +12

FL t(14;18) BCL2/IgH

MCL t(11;14) BCL1/IgH

MALT t(11;18) MLT/API2

LPL t(9;14) PAX5/IgH

ALCL t(2;5) ALK/NPM

MDS -5, -5q, -7, -7q, -8

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28
Q

What are the recurrent genetic abnormalities assoc with poor prognosis in ALL?

A

t(9;22) 190kd

t(v;11) MLL overexpress FLT3, and usualy absent CD10

Hypodiploid

t(1;19) E2A-PBX1

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29
Q

Name recurrent genetic abnormalities assoc with eos in ALL?

A

t(5;14) IL3-IGH

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30
Q

Which B lymphoma has the most freq bm involvment? pattern?

A

FL 30-40%

paratrabecular

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31
Q

Which B lymphoma has a nodular involvment of BM?

Intersitial?

A

Nodular

Mantle 10-20%

MZL 5%

Interstitial

Lymphoplasmacytic lymphoma

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32
Q

Which lymphomas express EMA? What cell expresses EMA?

A

ALCL

NLPHL

Primary effusion lymphoma

T cell rich B cell lymphoma

Plasma cell

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33
Q

What T cell lymphoma is associated with hypercalcemia?

A

ATCL

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34
Q

CD 25 is characteristically expressed in which lymphomas?

A

Hairy Cell

ATCL

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35
Q

Which lymphomas has t(11;14)?

A

Mantle

Multiple myeloma

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36
Q

CLL, Good and bad prognosis

A

Good: isolated 13 q and mutated IGHV

Bad: unmuated aka germline IGHVm ZAP 70, CD38, del 11, del 17

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37
Q

Whats the most common genetic abnormality of DLBCL?

A

BCL 2 or 6 rearrangments

BCL2 on Chrom 18 –> more common in GCB t(14;18)

BCL6 on Chrom 3 –> more common in ABC type t(3;14)

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38
Q

Name that disease and Gene!

AR chromosomal breakage syndrome

South Africans

Anemia/thrombocytopenia –> aplastic anemia

Cafe au lait spots

Thumb and raidal anomalies

Short stature

Microcephaly

A

Fanconi anemia

FANCA chrom 19

FANCC chrom 9

FANCG chrom 9

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39
Q

Name that disease and gene!

AD

Anemia

Increased I antigen on RBC

elevated ADA

HbF increased

Thumb and radial anomalies

short stature

cardiac defects

A

Diamond Blackfan

DBA1/RPS19 Chrom 19

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40
Q

Name that disease!

Positive HAM’s test

Erythroid precurosrs with internuclear bridges

AR

High I and i antigen on RBC

Anemia

A

Congenital dyserythropoietic anemia

Type 2 (HEMPAS) most common

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41
Q

Name that disease and gene!

AR

Neonates

No megs in BM

Thrombocytopenia –> pancytopenia

Thumb and raidal anomalies

A

Congenital amergakryocytic thrombocytopenia

CMPL 1p34

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42
Q

Name that disease and gene!

AD

Neutropenia –> aplastic anemia

Recurrent fever, cerical lymphadenopathy, oral ulcers, gingivitis, sinusitis, pharyngitis

A

Kostman syndrome

ELA2 (neutrophil elastase) 19p13

Cycline neutropenia/benign familial neutropenia has smiliar presentation and same mutation but the neutrophil counts cycles every 21 days from zero to normal.

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43
Q

Name that disease and gene!

Exocrine pancreatic insufficiency

bone marrow dysfunction

skeletal abnormalities

short stature.

A

• Shwachman-Diamond syndrome

○ Shwachman-Bodian-Diamond (SBDS) gene (7q11)

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44
Q

Microtubule polymerization defect (lysosomal trafficking regulator gene [LYST])

○ Anemia and neutropenia, recurrent infection (defect in phagocytosis), platelet dysfunction (first-wave aggregation only), oculocutaneous albinism, and neurologic defects

○ Abnormally giant granules in granulocytes that range in color from gray to red

A

Chédiak-Higashi syndrome

45
Q

Eczema, thrombocytopenia, immune deficiency

A

Wiskott-Aldrich syndrome

46
Q

Kikuchi characterized by?

A

Necrosis with No neutrophils

47
Q

macrothrombocytopenia

sensorineural hearing loss

cataracts

nephritis

polymorphonuclear Döhle-like bodies.

A

defect in the MYH9 gene on chromosome 22

May-Hegglin anomaly

Others in the MYH9 family are

Fechtner, Sebastian, and Epstein syndromes

48
Q

ANK1 is affected in?

A

Hereditary spherocytosis

49
Q

Flow-eosin 5 test is used for?

A

Hereditary spherocytosis

50
Q

In Hereditary elliptocytosis, how much elliptocytes do you need?

A

25%

51
Q

Spectrin alpha chain defect in?

A

Hereditary elliptocytosis

52
Q

Band 3 protein defect is seen in? Protective against?

A

Stomatocytic type of Hereditary elliptocytosis

P vivax

53
Q

What type of RBC do you get with defects in the Na/K permeability?

A

Hereditary stomatocytosis

54
Q

Name the associated CML phase

Leukocytosis, thrombocytosis, Low LAP, elevated B12

Progressive basophila (>20%), blasts 10-20%, thrombocytosis (>1 mil) or penia (<100k), clonal cytogenetic progression

>20% blasts, chloroma,

A

Chronic

Accelerated

Blast

55
Q

G6PD belongs in what pathway?

A

Pentose phosphate pathway

56
Q

How is G6PD and Pyruvate kinase deficiency inhereited?

A

G6PD : X linked recessive

Pyruvate Kinase : AR rescessive

57
Q

Name drugs that induces hemolysis in G6PD

A

Methylene blue

sulfa containing drugs

nitrofurantoin

primaquine

58
Q

Pyruvate kinase is in what pathway?

A

Embden-Meyerhof (Glycolysis) pathway

59
Q

Name the chains!

HbA

A

A2, B2

60
Q

Name the chains!

HbA2

A

A2 D2

61
Q

Name the chains!

HbF

A

A2 Y2

62
Q

Alpha chain is on chromosome?

A

16

63
Q

Beta chain is on chromosome?

A

11

64
Q

Name the beta chain variant!

glu–> val on position 6

A

S

65
Q

Name the beta chain variant!

Glu—> Lys on position 6

A

C

66
Q

Name the beta chain variant!

glu–> Lys on position 26

A

E

67
Q

Metabisulfite and dithionate tests are screening tests for?

A

HbS

68
Q

SS rbc’s have a lifespan of?

A

17 days

69
Q

Instead of the A1c, what do you test for in SS pts?

A

Fructosamine

70
Q

Thalassemic red cell indices can be seen in?

A

Hb E

Hb Constant spring

Hb Lepore

71
Q

What hemoglobin is the results of delta and beta gene fusion?

A

Hb Lepore

72
Q

How long is the alpha chain? beta chain? CS?

A

Alpha: 141

Beta: 146

CS: 172

73
Q

Methemoglobin (Hi) is due to?

A

Hb with Fe+++ (ferric state)

74
Q

What are some drugs that increase Hi?

A

Nitrites, quinones, phenacetin, sulfonamides

75
Q

What can measure Hi? what cant?

A

Cooximeter is capable of measuring methemoglobin

ABG and pulse ox cant

This is the same with HbCo

76
Q

How do you treat Hi?

A

methylene blue

77
Q

At what percentage does Hi cause cyanosis? what about SHb (sulfhemoglobin)

A

Hi: 10 % or 1.5 G/dl

SHb: 3-4% or 0.5 G/dl

78
Q

Whats the level of HbCO?

Normal

Smoker

Mild symptoms

Severe

Coma/death

A

Normal : 0.4 -2%

Smoker 2-6 %

Mild: 10-20%

Severe 20-50%

Coma/death >50%

79
Q

MCV/RBC count of <13 favors? >15?

A

<13 : thalassemia

>15: IDA

80
Q

Whats the difference between delta/beta thalassemia and Hb Lepore?

A

Delta/beta : deletion of delta and beta

Normal A2, F at 15-20%

Hb Lepore: fusion of delta beta

Normal A2, F slightly elevated

band in the S lane

81
Q

(-a/) or alpha thalassemia 2 is seen in?

A

African americans

82
Q

(– –/) or alpha thalassemia 1 is seen in?

A

Asians

83
Q

M pneumonia infection is associated with anti?

A

I

84
Q

EBV infection is associated with anti?

A

i

85
Q

PNH is the results of ?

A

PIG-A mutation on X chromosome which causes decreased glycosyl phosphatidyl inositol (GPI) anchors

86
Q

GPI anchored protein functions

A

to deflect complement mediated destruction

87
Q

In PNH, cells have diminished expression of?

A

CD55 :decay accereating factor

CD59: membrane inhibitor of reactive lysis

AchE

CD16

CD48

88
Q

What does Fluorescent aerolysin (FLAER), obtained from Aeromonas hydrophila bind?

A

GPI

89
Q

ZPP is elevated in?

A

IDA

Fe + Protoporphyrin IX = Heme

Without Fe the protoporphyrin increases and binds to zinc forming ZPP

90
Q

Whats a cofactor in methyl transfer reaction?

(dUMP to dTMP in DNA synthesis)

A

Folate

91
Q

How is B12 absorbed?

A

Binds to R factor in the stomach

Released from R factor in the duodenum by pancreatic enzymes

binds to gastric derived Intrinsic factor

Absorbed in the ileum

binds to transcobalamin 1 and 2 in enterocytes

92
Q

Elevated urinary FIGLU (formiminoglutamic acid) indicates?

A

folate deficiency

93
Q

Elevated urinary methylmalonic acid indicates?

A

B12 deficiency

94
Q

X linked sideroblastic anemia is due to?

A

ALAS2 gene

95
Q

Name 4 erythropoietin (EPO) producing neoplasms

A

Uterine Leiomyoma

RCC

Cerebellar hemangioblastoma

HCC

96
Q

Name that syndrome

Young adult female who smokes

Indented to bilobed lymphocyte with abundant pale cytoplasm

polyclonal IgM hypergammaglobulinemia

No cytopenia

HLA-DR7+

A

Syndrome of persistent polyclonal B lymphocytosis

97
Q

Reider cells ( small mature lymphocytes with clefted nuclei) associated with?

A

Pertussis

98
Q

Which cytokine stimulates eosinophils?

A

IL-5

99
Q

Felty triad

A

RA

Splenomegaly

Neutropenia

100
Q

What should you consider with monocytopenia?

A

Hairy cell leukemia

101
Q

Quinidine is associated with autoantibody against GP__

A

GP IX

as in GPIb/V/IX complex aka CD42

102
Q

ITP is caused by autoantibodies against?

A

GPIb, GPIIb(CD41), GPIIIa(CD61)

103
Q

Neutrophila (with all ages present), blasts <20%, marrow dysplasia, cytogentic abnormalities, absence of philadelphia chromosom

A

aCML

104
Q

cytogenetics seen in aCML?

A

+8 or del 20q

some has JAK2

105
Q

Name the MPN

A

CML

PV

ET

PMF

CEL

CNL

Mastocytosis

106
Q

BCR is on chromosome

A

22

107
Q

u-BCR break point with located where and what is it assocciated with?

A

230

thrombocytosis and leukemic neutrophils

108
Q

Name the MPN

Hgb >18.5M or 16.5F; splenomegaly, hypercellular marrow, low erythropoietin

BM: intrasinusoidal hematopoiesis

>450K plts

A

PV

PMF

ET

JAK2 V617F seen in all cases of PV, and 50% of cases in ET and PMF

Pathology (16 decks)

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