Heme/Onc

Question 1

Most common cause of anemia worldwide?

Answer 1

Iron defieciency

Question 2

Crew cut appearance on skull xray

Answer 2

B-thalassemia major

Question 3

Type of hemoglobin seen most commonly in B-thalassemia

Answer 3

HbF and HbA2

Question 4

HbH disease is caused by mutation in

Answer 4

Three of the four alpha-globin loci

Question 5

List the causes of RBC hemolysis that are due to external factors

Answer 5

Most acquired

• Mechanical (prostetic valve, microangiopathic hemolysis)
• Medications, burns, toxins etc

Question 6

List the causes of RBC hemolysis that are due to intrinsic factors

Answer 6

Most often inherited

• sickle cell, hemoglobin c disease, thalassemia
• herditary spherocytosis, PNH
• G6PD deficiency, pyruvate kinase deficiency

Question 7

Hemoglobinuria (dark urine) is predominently caused by hemolysis in this compartment

Answer 7

intravascular

Question 8

Inheritance pattern of sickle cell

Answer 8

autosomal recessive

Question 9

Mutation present in sickle cell

Answer 9

Valine for glutamate that the 6th position in B chain

Question 10

Often the first manifestation of sickle cell

Answer 10

hand-foot syndrome

Presents in infancy– swelling of the dorsum of the hands and feet caused by avascular necrosis of the metacarpal and metatarsal bones

Question 11

Painless hematuria in a sickle cell patient

Answer 11

Renal papillary necrosis

Question 12

Hoe does hydroxyurea improve painfule sickle crises

Answer 12

Improves production of HbF which does not sickle

Question 13

RBC protein deficient in hereditary spherocytosis

Answer 13

Spectrin and ankryn

Question 14

Why does RBC assume spherical shape in hereditary spherocytosis? How does this relate the immune anemia?

Answer 14

Decreased surface area with maintained volume leads to a smaller cell that tries to maintain volume and “stretches” into a spherical shape– osmotically fragile

IHA- the RBC is eaten away by the speen resulting in reduced RBC membrane and the same concept above applies. Differnce is a positive direct coombs test

Question 15

Inheritance pattern of G6PD deficiency

Answer 15

x-linked recessive (like duschene and hunters)

Question 16

Peripheral blood smear findings in G6PD defieciency

Answer 16

Bite cells

Heinz bodies (different than howell-jolly)

Question 17

Two forms of autoimmune hemolytic anemia (AIHA) and Ab types

Answer 17

Warm (IgG)– cancer, SLE, alpha-methyldopa

Cold (IgM)– Mycoplasma, elderly

Question 18

Glocoprotein deficiency in PNH

Answer 18

CD55/DAF complex– binds the C3 convertase, C9/MAC complex

Phosphotidylinositol glycan A

Question 19

Sugar water and Hams test

Answer 19

RBC subjected to sucrose– hemolyisis if PNH present

RBC subjected to acidified serum– Hemolysis if PNH present

Question 20

Initial therapy for PNH

Answer 20

glucocorticoids

Question 21

Most common cause of immune (idiopathic) thrombpcytopenic purpura (ITP)

Answer 21

Children– acute post viral syndrome

Adults– chronic idiopathic

Question 22

Is there splenomegaly in ITP?

Answer 22

NO

Question 23

Treatment for ITP

Answer 23

Corticosteroid and IVIG to saurate the immunoglobulins

Question 24

Ab associated with TTP

Answer 24

ADAMSTS13

Question 25

Ab present in HIT type 2

Answer 25

PF-4 (platelet factor 4) antibody

Question 26

vWF is intimately related to this coag factor

Answer 26

Factor VIII

Question 27

Treatment for vWdisease

Answer 27

DDAVP and Factor VIII concentrates which contain vWF

Question 28

inheritance of hemophilia A

Answer 28

x-linked recessive

Question 29

Mainstay of therapy for hemophila A

Answer 29

Factor VIII concentrate

Question 30

Mixing study will have this effect on PTT in hemophilia A

Answer 30

Corrects the PTT

Question 31

A normal level of this coagulation protein rules out DIC

Answer 31

Fibrinogen

-will be low in DIC

Question 32

Inheritance and pathophys of ATIII deficiency

Answer 32

utosomal dominant

ATIII normall inhibits thrombin (potent activator of coag cascade) so lack of it leads to overactive thrombin and coagulation

Question 33

Ab in antiphospholipid syndrome

Answer 33

against lupus anticogaulant (tested with russell viper venom) and anticardiolipin or B2 microglobulin

Question 34

Protein C normally inhibits these factors

Answer 34

V and VIII

Protein C deficiency leads to thrombosis

Question 35

Protein S is a cofactor of

Answer 35

Protein C

Question 36

Pathophys of factor v leiden

Answer 36

Mutation in Factor V inhibits binding of protein C which normally inactivates it–> leads to overavtive Factor V and thrombosis

Question 37

Patient presents with decreased vibratory sense and ataxia but the B12 level is borderline normal. What is the next best test?

Answer 37

methylmalonic acid level

becuase transcobalamin is an acute phase reactant it can be falsely elevated and appear normal

Question 38

Pancreatic enzyme deficiency leads to b12 deficiency for this reason

Answer 38

pancreatic enxymes are needed to cleave B12 from the R-protein before it can be bound by intrinsic factor

Question 39

Most accurate test for parvovirus in a sickle cell patient

Answer 39

Parvovirus B-19 PCR

Question 40

Best initial test for G6PD deficiency

Answer 40

Peripheral smear

Question 41

Most accurate test for G6PD deficiency

Answer 41

G6PD level 1-2mo. after an acute attack

Question 42

mneumonic for TTP

Answer 42

FAT-RN

Fever

Anemia

Thrombocytopenia

Renal failure

Neurologic deficits (distinguishes from HUS)

Question 43

What is the best test for PNH

Answer 43

CD55/59 testing via flow cytometry

Ham and sucrose tyest are obsolete

Question 44

This immune modulator is used to treat PNH. How does it work

Answer 44

Eculizumab

inactivates C5 in complement and prevents RBC destruction

eculizumab=complement inhibitor

Question 45

What is the preferred treatment for aplastic anemia for a patient too old for bone marrow transplant

Answer 45

antithymocyte globulin and cyclosporin