Hematology - Practical Clinical Pathology

Front 1

Most common red cell disorder of persons of Northern European descent?

Back 1

Hereditary Spherocytosis

Front 2

Inheritance of hereditary spherocytosis?

Back 2

AD

Front 3

Most common gene involved in hereditary spherocytosis?

Back 3

Ankyrin

Front 4

Second most common gene involved by hereditary spherocytosis?

Back 4

Band 3

Front 5

Most characteristic CBC anomaly of hereditary spherocytosis?

Back 5

Increased MCHC

Front 6

Differential diagnosis of spherocytes in the peripheral blood?

Back 6

Immune mediated hemolysis and hereditary spherocytosis

Front 7

Inheritance and mutation of Hereditary Elliptocytosis

Back 7

AD, Spectrin alpha

Front 8

Diagnostic criteria for hereditary elliptocytosis?

Back 8

At least 25% of circulating cells

Front 9

What is a variant of elliptocytosis that has an unusual sensitivity to heat?

Back 9

Hereditary pyropoikolocytosis

Front 10

Common type of elliptocytosis in Malaysia and defect?

Back 10

Stomatocytic type, band 3 defect

Front 11

The stomatocytic variant of elliptocytosis confers what advantage?

Back 11

Protection against P. vivax malaria

Front 12

Stomatocytosis is a feature of what blood group?

Back 12

Rh Null

Front 13

What happens when Hb becomes oxidized?

Back 13

It produces heinz bodies

Front 14

Examples of sources that cause oxidant stress in G6PD?

Back 14

Sulfa drugs, methylene blue, fava beans

Front 15

How do you stain a heinz body?

Back 15

Supravital dyes such as methyl violet, crystal violet, or brilliant cresyl blue

Front 16

What protection does G6PD confer

Back 16

Protection against Plasmodium falciparumX linked disorder

Front 17

Inheritance of G6PD?

Back 17

X linked

Front 18

What test can you do for G6PD?

Back 18

Fluorescent spot test
Incubate RBCs with NADP and G6P and measure the production of NADPH which fluoresces

Front 19

Inheritance of pyruvate kinase deficiency?

Back 19

Autosomal recessive

Front 20

Which populations have a high frequency of pyruvate kinase deficiency?

Back 20

Pennsylvania Amish and Northern Europe

Front 21

What are classic on a smear of PK deficiency?

Back 21

Echinocytes

Front 22

What test can you use for PK deficiency and how does it work?

Back 22

Fluorescent Spot Test.
RBCs are incubated with NADH (340nm) to check for conversion to NAD.

Front 23

What enzyme is responsible for degredation of RNA that is present within the reticulocyte?

Back 23

Pyrimidine 5' nucleotidase

If you don't have it you get basophilic stippling
Lead inhibits this enzyme

Front 24

Hemoglobin A composition?

Back 24

2 alpha and 2 beta chains

Front 25

Alpha chains are on what chromosome?

Back 25

16

Front 26

Beta chains are on what chromosome?

Back 26

11

Front 27

Hemoglobin F composition

Back 27

Alpha 2 Gamma2

Front 28

Hemoglobin S pathophysiology?

Back 28

the S allele has a valine in place of a glutamate at position 6 of the hemoglobin Beta chain

Front 29

Average lifespan of RBCs in SS disease?

Back 29

17 days

Front 30

How much HbA in HbSS?

Back 30

0%

Front 31

Sickle cell trait confers protection against?

Back 31

P. falciparum

Front 32

How does HbS levels change with S-alpha thal?

Back 32

With more alpha globin gene deletions, less HbS

Front 33

How does HbS change when coinherited with beta thal?

Back 33

It increases

Front 34

HgbCC on electrophoresis?

Back 34

90% HgB C, 7% Hgb F, 3% HgbA2, 0% HbA

Front 35

What is the second most common abnormal hemoglobin after Hgb S?

Back 35

Hgb E

Front 36

Where does E run with on conventional electrophoresis?

Back 36

It always runs with A2

Front 37

Where do Hgb D and G run on electrophoresis?

Back 37

With S on alkaline
With A on citrate

Front 38

Where does Hb lepore run on alkaline gel?

Back 38

With S

Front 39

Pathogenesis of hgb constant spring?

Back 39

Mutation in alpha globin gene stop codon, producing an abnormally long transcript that is unstable.

Thalassemic type RBC indices

Front 40

How do you screen for unstable hemoglobins?

Back 40

Incubating lysed RBCs with 17% isopropanol which causes precipitation
Examples: Koln, Seattle, Tacoma...

Front 41

How do you treat methhemoglobinemia?

Back 41

Methylene blue

Front 42

Levels of CO in:
Non Smoker
Smoker
Mild Symptoms
Severe Symptoms
Coma and Death

Back 42

0.4-2%
2-6%
10-20%
20-50%
>50%

Front 43

Instrument to measure CO?

Back 43

cooximeter

Front 44

CBC findings of typical thalassemia?

Back 44

Elevated RBC count
Reduced MCV
Low HcT
RDW normal to slightly increased
MCV/RBC ratio <13

Front 45

HbH composition?

Back 45

Beta Tetramers

Front 46

T/F - HbH patients are transfusion dependent

Back 46

False. Usually not dependent

Front 47

Lab findings in Beta thal minor?

Back 47

Elevated HbA2, Normal HbF

Front 48

Beta thal major electrophoresis?

Back 48

HbF - 50 - 90%
Norma to elevated HbA2
No HbA

Front 49

Cause of hereditary persistence of fetal hemoglobin

Back 49

Delayed switch from gamma to beta chains

Front 50

Most common cold agglutinin

Back 50

auto Anti-I

Front 51

EBV is associated with what cold agglutinin

Back 51

anti-i

Front 52

Mycoplasma is associated with what cold agglutinin

Back 52

anti-I

Front 53

Defect in PNH?

Back 53

Lack of GPI anchors coded by PigA gene due to mutation

Front 54

Clinical presentation of PNH?

Back 54

Episodic eolysis, abdominal pain, back pain, headaches (night)

Front 55

Traditional screening tests in PNH?

Back 55

Ham and Sucrose hemolysis test

Front 56

Mainstay of diagnosis of PNH?

Back 56

Flow Cytometry for surface proteins on neutrophils monocytes and RBCs
RBC analysis - CD55 and CD59 are studied

Front 57

Earliest finding in iron deficiency anemia?

Back 57

Decrease serum ferritin

Front 58

Last finding in iron deficiency anemia

Back 58

decreased Hgb

Front 59

TIBC, Serum Iron, Percent Transferrin in Iron deficiency anemia?

Back 59

TIBC - elevated
Serum iron and % transferrin are low

Front 60

Where is iron absorbed?

Back 60

duodenum

Front 61

Where is folate absorbed?

Back 61

Jejunum

Front 62

Most common diseases associated with anemia of chronic disease?

Back 62

Rheumatoid arthritis, lupus, chronic infection, malignancy

Front 63

Serum Iron, TIBC, % transferrin saturation, and Ferritin in anemia of chronic disease?

Back 63

Iron normal to decreased, TIBC normal to decreased, % transferrin saturation >15%, Ferritin normal to increased

Front 64

Malignancies associated with Fanconi anemia?

Back 64

SCC, Gastric CA, and HCC

Front 65

Screening test for Fanconi Anemia?

Back 65

Based on know hypersensitivity of FA cells to DNA crosslinking agents. Cells grown in culture are expposed and leads to increased chromosomal breask, gaps, and RADIALS.

Front 66

Hematologic Sequelae of Fanconi Anemia?

Back 66

MDS or AML

Front 67

Absent thumbs or radii, renal abnormalities, elevated hgb F, short stature.... diagnosis?

Back 67

Fanconi Anemia

Front 68

Acquired pure red cell dysplasia is associated with what?

Back 68

Thymoma (type A)

Front 69

How does parvovirus gain access to erythroids?

Back 69

P antigen

Front 70

Swachman-Diamond syndrome characteristics?

Back 70

Neutropenia, pancytopenia, pancreatic dysfunction with fatty replacement, and skeletal abnormalities

Front 71

What are some mimickers of aplastic anemia?

Back 71

PNH, Hairy Cell Leukemia, T-cytotoxic LGL

Front 72

What is gaisbock syndrome?

Back 72

Spurious erythrocytosis of dehydration

Front 73

Name some EPO secreting neoplasms?

Back 73

RCC, Cerebellar hemangioblastoma, Uterine Leiomyoma, and HCC

Front 74

Pentad for hantavirus?

Back 74

Thrombocytopenia, left shifted neutrophilia, lack of toxic granulation, increased Hgb concentration and >10% of lymphocytes having immunoblastic morphology

Front 75

Common finding of hairy cell leukemia on physical exam?

Back 75

Splenomegaly

Front 76

Blood lakes are a common BM biopsy finding in what condition?

Back 76

Hairy Cell leukemia

Front 77

Immunophenotype of HCL?

Back 77

CD19, CD20, CD22, CD11c, CD25, CD103 positive

Front 78

What is the most specific hairy cell antigen?

Back 78

Annexin A1

Front 79

Favorable cytogenetics in MDS?

Back 79

Loss of Y, 5q-, and 20q-

Front 80

Most common fusion product of CML?

Back 80

p210

Front 81

p230 in CML is associated with what?

Back 81

Marked thrombocytosis and mature leukemic neutrophils

Front 82

p190 fusion protein in CML is associated with?

Back 82

Marked monocytosis

Front 83

Mechanisms of Imatinib resistance?

Back 83

Tyrosine kinase domain mtations, MDR-1 (p-glycoprotein) overexpression

Front 84

Major criteria for Pvera?

Back 84

Hgb >18.5 for men, >16.5 for women, or increased RBC mass
Jak2 or similar mutation

Front 85

Minor criteria for Pvera?

Back 85

Bone marrow panmyelosis, endogenous erythrooid colony formation in vitro, normal serum EPO

Front 86

AML with good prognosis?

Back 86

Inv 16 or t(16;16)
t(8;21)
t(15;17)

Front 87

Morphologic features of Inv 16 AML?

Back 87

Myelomonocytic differentiation with abnormal eospinophils

Front 88

The atypical eos in inv 16 AML stain with?

Back 88

Alpha napthyl acetate esterase