Anemias

Question 1

G6PD deficiency hallmarks

Answer 1

inherited x linked
normochrom. normocyt.
heinz bodies
hemolytic signs
Spherocytes
Bite cells

Question 2

pyruvate kinase deficiency hallmarks

Answer 2

autosomal recessive
normochrom. normocyt.
burr cells
increased DPG, gallstones (increased bili.)
hemolytic signs

Question 3

anemic enzyme deficencies testing

Answer 3

add glucose to sample
cells increase in hemolysis in 48 hrs.
if not corrected by glucose: pyruvate kinase
if corrected by glucose: G6PD

Question 4

hereditary spherocytosis anemia hallmarks

Answer 4

autosomal dominant
deficiency of spectrin (unstable mem)
hemolytic signs
normochrom. normocyt
MCHC <36%
 spherocytes,, polychromasia
osmotic fragility test

Question 5

osmotic fragility test

Answer 5

tests RBC resistance to lysis by osmotic stress
depends on cell volume, surface area, membrane
as NaCl decre. cells take in H2O
i.e. spherocytes take in less water than normal cells before they hemolyse

Question 6

hereditary elliptocytosis anemia hallmarks

Answer 6

autosomal dominant inheritance
ab. mem (spectrin)
elliptocytes >25%
3 variants: common, spherocytic, stomatocytic
hemolysis indicators
mildlly incre retic

Question 7

indicators of hemolysis

Answer 7

increased: retics, polychromasia, bilirubin, urobilinogen, LDH, jaundice
decreased: Hgb, Haptoglobin
hemoglobinemia, hemoglobinuria, hemosiderinuria
RBCs with various shapes
erythroid hyperplasia in BM: decre. M:E ratio
nRBCs
RPI>2.0

Question 8

spur-cell anemia hallmarks

Answer 8

severe liver disease
increased cholesterol in RBC mem
leptocytes (big thin macrocytes)
normochrom. normocyt.
hemolytic signs
acanthocytes, burr cells, target cells
ab. liver tests

Question 9

paroxysomal nocturnal hemoglobinuria (PNH)

Answer 9

acquired idiopathic
ab. mem.
insidious onset- sensitive to pH when sleep cells lyse
BM hypoplasia
indicators of hemolysis
normochrom. normocyt.
tests: sugar water test, acid serum test, immunophenotyping

Question 10

types of hemolysis

Answer 10

intravascular: due to Ab or compliment, trauma, toxins
see hgburia, hemosiderinuria
extravascular: RBC destruction (liver, spleen, BM)
see increas. bili w/o Hgbemia, hgburia, hemosiderinuria, urobilinogen

Question 11

non-immune hemolytic anemia extrinsic defects

Answer 11

chemicals and drugs
venoms
infectious agents (Babesiosis, Bartonella, Clostridium, Malaria)

Question 12

Malaria smears

Answer 12

thin smears: look @ parasites

thick smears: to ID malarial parasites

Question 13

Abetalipoproteinemia hallmarks

Answer 13

absence of beta lipoprotein (ab. mem,)
normochrom, normocyt.
acanthocytes
maybe decreased Hgb and hemolysis maybe not

Question 14

non-immune hemolytic anemia: physical injury

Answer 14

intravascular hemolysis
fragments, helmet cells
normochrom. normocyt

Question 15

microangiopathic hemolytic anemia hallmarks

Answer 15

non-immune hem. anemia
underlying disorder (lesion,, artificial heart valve, TTP, DIC, burns)
indicators of hemolysis
fragments

Question 16

HELLP syndrom

Answer 16

microangiopathic hemolytic anemia
Hemolysis, Elevated Liver enzymes, Low Platelets
3rd trimester obstetric patients
similar to TTP AND HUS

Question 17

March Hemoglobinuria

Answer 17

microangiopathic hemolytic anemia
Extreme exercise
no frags

Question 18

HUS

Answer 18

Hemolytic uremic syndrome
infec., GI, Shigella (toxin), E. coli 0157:H7,
acute onset: pallor, vomiting, red/black urine, renal failure, anuria
mod-severe anemia
indicators of hemolysis
decreased platelets
normochrom. normocyt
frags, burr, polychromasia
increased BUN, creatinine, casts in urine

Question 19

immune hemolytic anemia types

Answer 19

alloimmune: develop Ab that react against factors foreign to them (transfusion, hemolytic dis. or newborn (Ag from Dad- mom Ab against)
Drug induced

Question 20

Kleihauer-Betke stain

Answer 20

for fetal RBCs
hemolytic disease of the newborn
maternal Ab attaching to fetal RBCs w/ Ag from dad
HgbF resistant to alkaline- stain attacks mom’s cells-Hgb denatured-baby cell bright pink

Question 21

Warm autoimmune hemolytic anemia

Answer 21

IgG Ab
extravascular hemolysis
idiopathic 
normochrom normocytic
increased retics
spherocytes
associated w/ SLE, CLL, viral illness

Question 22

cold autoimmune hemolytic anemia

Answer 22

IgM Ab: directed against I Ag (on every adult RBC)
extravascular hemolysis or complement lysis
idiopathic
associated w/ mycoplasma, MPD, viral
Raynaud’s phenomenon
Icreased Mcv (polychromatic cells)
corrects with higher temperatures

Question 23

paroxysmal cold hemoglobinuria (PCH)

Answer 23

biphasic IgG Ab
Donath Landsteiner Ab (anti-p specificity)
rxn w/ RBC @ <15C, hemolysis @ body temp
DAT =
associated w/ viral, 3 syphilis, idiopathic
massive hemolysis w/ exposure to cold

Question 24

sickle cell anemia- hemoglobinopathies

Answer 24

black population most common
inherited homozygous
valine sub for glutamic acids @ #6 beta chain 
HgbS
ppt. w/ deoxygenation- not carry O2 well
see @ 6 mon. age and older

Question 25

sickle cell anemia clinical presentation

Answer 25

``` mod-severe anemia bone changes vaso-occlusive crises organ/tissue infarction necrosis autosplenectomy bact. infec. thrombosis ```

Question 26

sickle cell anemia lab hallmarks

Answer 26

indicators of hemolysis normochrom normocyt target, sickle, nRBCs, basophilic stippling, Howell-Jolly bodies, polychromasia, elliptocytes, frags

Question 27

sickle cell screening test

Answer 27

see if Hgb S present lyse RBCs and deoxygenate to prod. sickle cells if positive can't see print through tube

Question 28

Hemoglobin electrophoresis

Answer 28

diff. Hgb migrate @ diff. rates cellulose acetate @ ph 8.4: anode to cathode C/A2, S/D, F, A (a-accelerates, f-is fast, s-slow, c-crawls) citrate agar ph 6.2: separates-anode to cathode: F, D/A2/A, origin, S, C

Question 29

sickle cell trait

Answer 29

inherited heterozygous HgbS usually normal until stress event normal CBC electrophoresis: A 50-65%, S 35-45%, F <1% sickle cell screening tests will be + due to HgbS present

Question 30

Hemoglobin C disease- hemoglobinopathies

Answer 30

inherited homozygous lysine for glutamic acid #6 beta chain usually asymp./joint pain/spenomegaly indicators of hemolysis target cells, Hgb C crystals Hgb electrophoresis: C >90%, slight increase in F decreased osmotic fragility (much less fragile due to target cells)

Question 31

hemoglobin C trait

Answer 31

inherited heterozygous asymp. target hgb electrophoresis: A 60-70%, C 30-40%

Question 32

Hemoglobin SC disease

Answer 32

inherited one gene S hgb one gene C hgb similar to SSA, splenomegaly normochrom normocy indicators of hemolysis target, sickle, hgb c crystals, bizarre shaped cells hgb electrophoresis: 50% S, 50% C slight increase F

Question 33

hemoglobin D disease

Answer 33

``` inherited glutamine for glutamic acid @ 121 asymp., Punjab/LA target cells hgb electro. Hgb D (citrate agar to separate from S) ```

Question 34

hemoglobin E disease

Answer 34

``` inhertied lysine for glutamic acid @ 26 oriental, 3rd most prevalent, asymp target cells hgb electro. increase hgb E ```

Question 35

unstable hemoglobins- hemoglobinopathies

Answer 35

``` aa mutations that alter hgb stability inherited, spontaneous, drug extravascular hemolytic anemia form sufhgb and methgb indicators of hemolysis normochrom normocyt frags (bite cells), Heinz bodies ab heat instability test ```

Question 36

beta thalassemia major

Answer 36

``` both beta genes affected b*/b*, b+/b*, b+/b+ excess alpha chains- ppt severe anemia, cardiac failure (die by 20), BM hyperplasia, extramedullary hematopoiesis decreased hgb indicators of hemolysis 4+poikilocytosis, nRBCs microcytic hypochromic hgb electro: decreased hgb A, N/increased Hgb A2, very increased hgb F serum Fe and ferritin are N/increased ```

Question 37

beta thalassemia minor

Answer 37

inherited heterozygous b+/b, b*/b asymp. unless stressed lots of RBC morph. for mild anemia- doesn't match hgb electro; increased A2 5%, N/increased hgb F microcyt. hypochrom

Question 38

beta thalassemia hemoglobin S

Answer 38

``` inhertied heterozygous b+/s, b*/s b+/s: few sypmp., like sickle cell trait b*/s: severe anemia like sickle cell microcyt hypochrom poikilocytosis, target increased retic hgb electro: hgb S 50-95%, hgb A 0-50%, hgb F 2-30% ```

Question 39

alpha thalassemia

Answer 39

blacks, indians, chinese, SE asian, middle east | decreased synth. alpha chains

Question 40

alpha thalassemia silent carrier

Answer 40

3 normal alpha genes 1 ab alpha gene asypm. benign

Question 41

alpha thalassemia trait (minor)

Answer 41

2 norm genes, 2 ab genes mild microcyt hypochrom excess beta chains form tetrads= B4= HgbH (very unstable)= Heinze bodies= hemolysis

Question 42

alpha thalassemia Hemoglobin H disease

Answer 42

``` 1 normal gene, 3 ab gene microcyt hypoch increased retic excess beta from tetrads= Hgb H (high affinity for O2) heinz bodies ```

Question 43

alpha thalassemia hydrops fetalis

Answer 43

``` 0 normal genes excess gamma in fetus gamma 4= hgb barts (high O2 affinity) hypoxia- stillborn hypochromic anemia increased retic and nRBCs anisocytosis, poikilocytosis ```

Question 44

hereditary persistence of fetal hemoglobin

Answer 44

``` inherited no prod. of beta/delta chains gamma chains for all life asymp increased hgb due to increased o2 affinity of HgbF no sig. hemolysis microcy hypochrom anisocytosis, poikilocytosis ```

Question 45

iron deficiency anemia

Answer 45

``` low on Fe (increased demand, low dietary ingest, malabsor) hypochrom microcyt increased RDW elliptocytes BM erythrocytic hyperplasia decreased M:E ```

Question 46

sideroblastic anemia

Answer 46

ab. heme synthesis (autosomal sex linked) dimorphic population: normal & hypochrom microcyt pappenheimer bodies, basophilic stippling, increased RDW RPI <2 ring sideroblasts decreased M:E erythrocytic hyperplasia

Question 47

megaloblastic anemia

Answer 47

ab. in dna syth.; nucleus mature slower macrocyt normochrom oval macrocytes, howell jolly bodies, hypersegmented neut. decrease wbc, plt, rbc= pancytopenia BM: asynchony= cyto. matures norm. nucleus not mature as fast

Question 48

non megaloblastic anemia

Answer 48

liver disease, alcoholism macrocy normochro increased MCV normal MCHC target, macrcocytes

Question 49

acute blood loss anemia

Answer 49

single event (surgery/ amputation) normocyt normochro normal MCV, MCHC, RDW

Question 50

Chronic disease anemia

Answer 50

hospitalized patients, nursing home normochrom normocyt increased Ferritin

Question 51

porphyrias anemia

Answer 51

``` ab. porphyrin synth inherited normochrom normocyt pink/reddish brown urine fluoresence UV light ```

Question 52

chronic renal failure anemia

Answer 52

increased toxins, decreased erythropoietin 2* anemia patients bleed- rbc lyse- decreased prod. of erthyropoietin normochrom normocyt burr cells, frags associated renal failure disease test results

Question 53

endocrine disease anemia

Answer 53

hypothyrodism (response to decreased need for O2) nomochrom normocyt treat underlying disorder

Question 54

aplastic anemia

Answer 54

``` inherited, idiopathic, drugs, chemo pancytopenic normochrom normocyt lymph cells dominate BM hypocellular ```

Question 55

pure red cell aplasia anemia

Answer 55

only involves red blood cells rare nomochrom normocyt M:E increased; decreased erythroid precursor

Question 56

myelophthisic anemia

Answer 56

due to marrow replacement by fibrotic cells (myelofibrosis, tumors) pancytopenia normochrom normocyt nRBCs, immature wbc= out of proportion to the degree of anemia teardrops