RBC Enzyme defects/Immune (Anemia Pt2)

Question 1

Describe G6PD Deficiency
Common?
Linked?
Participates in?
W/O what?

Answer 1

most common hereditary enzyme defect that causes anemia
X-linked
Participates in hexose mannophosphate for NADPH prod
W/O NADPH RBC is vuln. for oxidative damage

Question 2

What are some consequences of oxidative agents?

Answer 2

denatured Hgb (heinz bodies)
Rbc membrane skeletal structure abnormal

Question 3

T/F: RBCs with normal G6PD are able to detox oxidative compounds and protect Hgb

Answer 3

true

Question 3

Describe hemolysis results from heinz body formation

Answer 3

limited to older cells
heme stops after oldest cells die
# retics affect the rate of hemolysis

Question 4

What are some chemical difficulties with G6PD
(RBC life and morphology)
whatkind of anemia

Answer 4

chronic defect anemia
slightly reduced rbc life span, rbc morph is normal

Question 5

Describe the hemolytic crisis

Answer 5

anemia is mod to severe
rbc morph changes depend on hemolysis
increased retics - use supravital stain

Question 6

Describe G6PD flourescense under UV light

Answer 6

no fluorescense and cant preform this after hemolytic lysis

Question 7

Describe pyruvate kinase Deficiency
Common in?
Source of what?

What is decreased/increased?

Flourescense?

Answer 7

most common def in Embden-meyerhoff pathway
ATP decreased E-M pathway is the source for cellular energy

Increased 2,3 BPG (increased oxy to tissues)
Increased retics

Fluorescnese under UV

Question 8

Describe Porphyrias

Answer 8

groups of rare anemias hereditary with a error in biosynth
specific enzyme def in accumulation of specific poryphrin tissue
may result in anemia

Question 9

Describe PNH (proxymal nocturnal hemoblobinuria)
Aquired….
What type of hemolysis
Complement involvement?

Decreased?

Answer 9

aquired myeloproliferative disorder - defective pluripotential stem cell
Intravascular hemolysis
Complement fixes to rbc - lyses

Dec pH
Dec Iron strength

Question 10

Describe def of Anchor protein in PNH
What is decreased?
What happens at night?
How serious is disease?

Answer 10

GP1 - dec CD55/CD59
slow met. rate at night, respiratory hemolysis

Dec plasma pH
serious disease, pt dies from complications like infections

Question 11

T/F PNH can lead to aplastic anemia

Hemosiderinuria does not lead to IDA

Answer 11

true

False, it does lead to IDA - thrombocytopenia/infections

Question 12

T/F rbc/granular analyzed by flow for surface expression of GP1 anchoring proteins

Answer 12

true

Question 13

Describe Extrinsic abnormalities damaging RBCs

Microanigo Hem. anemia (MAHA)
Rbcs do what?
what kind of course

Answer 13

rbcs pass through fibrin strand/damaged vessicles
Chronic course - DIC - acute condition

Question 14

What are the two disorders associated with MAHA?

Answer 14

Thrombocytopenia purpura (TPP)
Hem. Uremic synd. (HUS)

Question 15

Describe Throm. Purpura (TPP)

Answer 15

pentad of findings
hem. anemia w schistocytes
thrombocytopenia
neurological signs
fever/progressive renal failure

Question 16

T/F TPP does not have plt aggregates

Answer 16

false, it has small plt agreggets

Question 17

Describe TPP’s Vonwillebrand factor

Answer 17

unusally large VWB factor in TPP occuldes the capillaries in organs

Question 18

Describe Aquired TPP
and
Inhereted TPP

Answer 18

Aquired: auto-AB to ADAMSTS13 (most common)
Inherited: Varient of TPP caused by ADAMSTS13 Deficiency

Question 19

Describe HUS

Answer 19

resembles TPP found in young children
triad of findings - MAHA
ACUTE RENAL FAILURE
thrombocytopenia

Question 20

How do you distinguish between TPP and HUS?

Answer 20

severty of renal failure/absense of neurological symptoms in HUS

Question 21

What is the typical cause of HUS in children?

Answer 21

E.coli
following enteric infections
toxins - renal capillaries
may set off DIC (local clots dont occur)
may cause plt activation

Question 22

What are some other causes of non-immune anemias hemolytic?
M
D
F
M
V/B

Answer 22

Malign. hypertension
DIC
fibrin carcinoma
Microoganisms
Venom/burns

Question 23

Briefly describe immune hemolytic anemias

Answer 23

shortened rbc life caused by an AB

Question 24

Describe Auto-immune hem. anemia (AHA) Warm vs Cold reactive

Answer 24

Ab against self Warm reactive - 37deg most common Usually IgG DAT + Cold reactive optimal at 4 deg (25-30deg) usually IgM

Question 25

Describe Cold agglut disease syndrome Anti what 2nd forms? Cold weather? Compl fixation? DAT/MCHC

Answer 25

Anti-I 2nd forms assoc. with infections Cold weather - rbc agglut in skin capillaries/local blood stasis Complete fixation - intravas hemolysis DAT + 15-32deg MCHC >35

Question 26

Most common causes for MCHC>36?

Answer 26

spherocytes Cold Ab Agglut false inc Hgb result from lipemia/ictureus/hemolysis

Question 27

Describe Prox. Cold Hemoglobinuria (PCH) common in? Assoc What binds? What happens with incr temp? Classic?

Answer 27

kids comon assoc. with viral infections IgG binds to rbc at low temps/act complement Hemolysis when temp increases Classic -AB- DONATH-LANDSTEINER AB (ANTI-P)

Question 28

Briefly describe the D-C test

Answer 28

2 samples 1 at 37deg for 60 min 2 at 4deg for 30 then 37deg for 30 (PCH=hemolysis in Tube 2)

Question 29

Describe Drug induced Hem. anemia what complex? Absorbtion? Describe Haptens role

Answer 29

immune complex w drug/pt Ab/ absorbed into rbc - activates compliment Hapten: drug non specif bound to rbc - developes anti-drug ab Membrane modification drug induced autoab production

Question 30

Describe Alloimmune Hem. anemia What rxn? Delayed vs immediate

Answer 30

Ab against foreign Ab Transfusion rxn: Immediate - acute intrav hemolysis (ABO) Delayed - previously formed Ab low titer not detec on Ab screen Ab titer increased with second exposure

Question 31

Describe Hem. disease of the newborn

Answer 31

most frequent Rh-Ab (Anti-D) ABO incompatible Usually at birth first child okay, second and third have issues

Question 32

How do you detect fetal maternal bleeds?

Answer 32

with acid-elution slide (kleihauer betke) all hgb can be diluted in acid bath Hgb F elutes faster than other adult Hgb Fetal cells pink

Question 33

How do you quantify Hgb F

Answer 33

flow cytometry - monoclonal ab-anti Hgb F quick and more precise HPLL

Question 34

Nucleus issues mean.... Hgb issues ... Globin problems...

Answer 34

Nucleus - megalonblastic Hgb - micro/hypo (iron/heme issue) Globin - thalassemia/hemoblobinopathyies