Anemias Flashcards
G6PD deficiency hallmarks
inherited x linked normochrom. normocyt. heinz bodies hemolytic signs Spherocytes Bite cells
pyruvate kinase deficiency hallmarks
autosomal recessive normochrom. normocyt. burr cells increased DPG, gallstones (increased bili.) hemolytic signs
anemic enzyme deficencies testing
add glucose to sample
cells increase in hemolysis in 48 hrs.
if not corrected by glucose: pyruvate kinase
if corrected by glucose: G6PD
hereditary spherocytosis anemia hallmarks
autosomal dominant deficiency of spectrin (unstable mem) hemolytic signs normochrom. normocyt MCHC <36% spherocytes,, polychromasia osmotic fragility test
osmotic fragility test
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
hereditary elliptocytosis anemia hallmarks
autosomal dominant inheritance ab. mem (spectrin) elliptocytes >25% 3 variants: common, spherocytic, stomatocytic hemolysis indicators mildlly incre retic
indicators of hemolysis
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
spur-cell anemia hallmarks
severe liver disease increased cholesterol in RBC mem leptocytes (big thin macrocytes) normochrom. normocyt. hemolytic signs acanthocytes, burr cells, target cells ab. liver tests
paroxysomal nocturnal hemoglobinuria (PNH)
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
types of hemolysis
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
non-immune hemolytic anemia extrinsic defects
chemicals and drugs
venoms
infectious agents (Babesiosis, Bartonella, Clostridium, Malaria)
Malaria smears
thin smears: look @ parasites
thick smears: to ID malarial parasites
Abetalipoproteinemia hallmarks
absence of beta lipoprotein (ab. mem,)
normochrom, normocyt.
acanthocytes
maybe decreased Hgb and hemolysis maybe not
non-immune hemolytic anemia: physical injury
intravascular hemolysis
fragments, helmet cells
normochrom. normocyt
microangiopathic hemolytic anemia hallmarks
non-immune hem. anemia
underlying disorder (lesion,, artificial heart valve, TTP, DIC, burns)
indicators of hemolysis
fragments
HELLP syndrom
microangiopathic hemolytic anemia
Hemolysis, Elevated Liver enzymes, Low Platelets
3rd trimester obstetric patients
similar to TTP AND HUS
March Hemoglobinuria
microangiopathic hemolytic anemia
Extreme exercise
no frags
HUS
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
immune hemolytic anemia types
alloimmune: develop Ab that react against factors foreign to them (transfusion, hemolytic dis. or newborn (Ag from Dad- mom Ab against)
Drug induced
Kleihauer-Betke stain
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
Warm autoimmune hemolytic anemia
IgG Ab extravascular hemolysis idiopathic normochrom normocytic increased retics spherocytes associated w/ SLE, CLL, viral illness
cold autoimmune hemolytic anemia
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
paroxysmal cold hemoglobinuria (PCH)
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
sickle cell anemia- hemoglobinopathies
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
sickle cell anemia clinical presentation
mod-severe anemia bone changes vaso-occlusive crises organ/tissue infarction necrosis autosplenectomy bact. infec. thrombosis
sickle cell anemia lab hallmarks
indicators of hemolysis
normochrom normocyt
target, sickle, nRBCs, basophilic stippling, Howell-Jolly bodies, polychromasia, elliptocytes, frags
sickle cell screening test
see if Hgb S present
lyse RBCs and deoxygenate to prod. sickle cells
if positive can’t see print through tube
Hemoglobin electrophoresis
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
sickle cell trait
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
Hemoglobin C disease- hemoglobinopathies
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)
hemoglobin C trait
inherited heterozygous
asymp.
target
hgb electrophoresis: A 60-70%, C 30-40%
Hemoglobin SC disease
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
hemoglobin D disease
inherited glutamine for glutamic acid @ 121 asymp., Punjab/LA target cells hgb electro. Hgb D (citrate agar to separate from S)
hemoglobin E disease
inhertied lysine for glutamic acid @ 26 oriental, 3rd most prevalent, asymp target cells hgb electro. increase hgb E
unstable hemoglobins- hemoglobinopathies
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
beta thalassemia major
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
beta thalassemia minor
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
beta thalassemia hemoglobin S
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%
alpha thalassemia
blacks, indians, chinese, SE asian, middle east
decreased synth. alpha chains
alpha thalassemia silent carrier
3 normal alpha genes
1 ab alpha gene
asypm.
benign
alpha thalassemia trait (minor)
2 norm genes, 2 ab genes
mild microcyt hypochrom
excess beta chains form tetrads= B4= HgbH (very unstable)= Heinze bodies= hemolysis
alpha thalassemia Hemoglobin H disease
1 normal gene, 3 ab gene microcyt hypoch increased retic excess beta from tetrads= Hgb H (high affinity for O2) heinz bodies
alpha thalassemia hydrops fetalis
0 normal genes excess gamma in fetus gamma 4= hgb barts (high O2 affinity) hypoxia- stillborn hypochromic anemia increased retic and nRBCs anisocytosis, poikilocytosis
hereditary persistence of fetal hemoglobin
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
iron deficiency anemia
low on Fe (increased demand, low dietary ingest, malabsor) hypochrom microcyt increased RDW elliptocytes BM erythrocytic hyperplasia decreased M:E
sideroblastic anemia
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
megaloblastic anemia
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
non megaloblastic anemia
liver disease, alcoholism
macrocy normochro
increased MCV normal MCHC
target, macrcocytes
acute blood loss anemia
single event (surgery/ amputation)
normocyt normochro
normal MCV, MCHC, RDW
Chronic disease anemia
hospitalized patients, nursing home
normochrom normocyt
increased Ferritin
porphyrias anemia
ab. porphyrin synth inherited normochrom normocyt pink/reddish brown urine fluoresence UV light
chronic renal failure anemia
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
endocrine disease anemia
hypothyrodism (response to decreased need for O2)
nomochrom normocyt
treat underlying disorder
aplastic anemia
inherited, idiopathic, drugs, chemo pancytopenic normochrom normocyt lymph cells dominate BM hypocellular
pure red cell aplasia anemia
only involves red blood cells
rare
nomochrom normocyt
M:E increased; decreased erythroid precursor
myelophthisic anemia
due to marrow replacement by fibrotic cells (myelofibrosis, tumors)
pancytopenia
normochrom normocyt
nRBCs, immature wbc= out of proportion to the degree of anemia
teardrops
