Red Cell Disorders Flashcards
(41 cards)
1
Q
Microcytic Anemia
A
Low MCV (<80)
Iron deficiency anemia
Anemia of chronic disease
Thalassemia
Sideroblastic anemia
2
Q
Macrocytic Anemia
A
- MCV > 100
- Megaloblastic
- b12 and folate deficiency
- Non megaloblastic
3
Q
MCH
A
Mean Corpuscular Hemoglobin
hb/rbc
4
Q
MCHC
A
Mean corpuscular hemoglobin concentration
hb/hct
5
Q
Iron Deficiency Anemia
A
- fatigue, atrophic glossitis, PICA, koilonychias
- Most common in USA from blood loss
- Pregnant women need more women
- Labs
- decrease in Fe, ferritin, % Fe saturation
- decrease MCV
- increase TIBC, transferrin, and EDW
- (serum iron also dec. in ACD, but ferretin increased in ACD)
6
Q
Ferritin
A
in increased with inflammation, so be careful.
look at saturation instead
7
Q
Anemia of Chronic inflammation
A
- Iron stuck in macrophages because of chronic inflammation
- Hepcidin blocks movement of iron from machrophges
- decreased response to EPO
- Labs
- increased ferritin
- decrease TIBC, transferrin
- N transferring receptor
- often normocystic but usually microcytic
*
8
Q
Sideroblastic anemia
A
- Fe in RBC mitochondria from abnormalities in porphyrin metabolism, blocks heme sysnthessis
- iron overload, inc. ferritin, low tibc
- blood basophilic stippling
- decreased pyridoxine b6
- decreased MCV unless there is MDS
- Causes
- Alcohol, most common
- MDS, drugs, toxins (lead, zinc, copper)
9
Q
Macrocytic Anemia
A
- Megaloblastic
- b12
- folate
- mds
- others where cells are more oval
- Non megaloblastic
- more round
- alcohol, liver biases, aplastic anemia, hypothyroid.
- more common than megaloblastic
10
Q
Megaloblastic anemia
A
- macrocytic anemia resulting from disorder in DNA synthesis
- Macroovalocytes
- hypersegment neutraphils (1 with 6 lobes or >5% with 5 lobbies)
- associates with MDS
- b12
- usually from pernicious anemia or other malabsortion
- takes longer
- neurologic problems, peripheral neuropathy,
- folate
- diet problem, green leafy vegatables
- develops faster than b12 deficiency
10
Q
Megaloblastic anemia
A
- macrocytic anemia resulting from disorder in DNA synthesis
- Macroovalocytes
- hypersegment neutraphils (1 with 6 lobes or >5% with 5 lobbies)
- associates with MDS
- b12
- usually from pernicious anemia or other malabsortion
- takes longer
- neurologic problems, peripheral neuropathy,
- folate
- diet problem, green leafy vegatables
- develops faster than b12 deficiency
11
Q
Megaloblastic Anemia Labs
A
- serum b12, folate
- RBC folate better than serum
- homocysteine (increased in both folate and b12 def)
- methylmalonic acid (normal in folate def)
- these may be easiest changes (before blood changes)
12
Q
Pernicious Anemia
A
- Auto immune dz with anti-intrinsic factor and anti-parietal cell antibodies and chronic atrophic gastitis
- Anti-intrinsic factor Ab (most specific but insensitive)
- Anti-parietal cell Ab (more sensitive but less specific, positive in other autominnume dz)
- Schilling test (normalizes when give intrinsic factor)
13
Q
Normocytic anemia
A
- abnormal break down of rbcs
- inc. reticulocytes (do methylene blue , other super vital)
- Hemolytic anemia
- dec haptoglobin
- inc. LDH
- inc. bilirubin
14
Q
Hereditary Spherocytosis
A
- problem with vertical interactions with RBC membrane in hereditary (ankryn)
- normal MCV
- also see in autoimmune hemolytic anemia
- DAT positive
- dec. MCV
- Osmotic fragility test, cells lyse when put in low tonic strength fluid
- EMA test is new (eosin-5-meleimide binding)
- lower update of a dye
- flow cytometry
15
Q
Elliptocytes
A
- Abnormal horizontal interactions with cytoskeleton
- abnormal spectrum or protein 4.1
- usually only mild hemolysis
- 25% of cells
- differential: iron deficiency anemia (pencil cells)
16
Q
Stomatocyte
A
- Hereditary stomatocytosis
- AD
- Defect in Na/K permeability of rbc membrane
- Alcohol and liver dz.
- Rh null disease
17
Q
RBC enzyme effects
A
- Defective pyruvate kinase for ATP
- and g6pd deficiency for NADPH
- needed for good membrane integrity
18
Q
Heinz body and bite cell
A
- heinz body is denatured hgb
- removed by spleen, making bite cell, blister cells
- seen in g6pd deficiency
- x-linked
- reticulocytes are normal in enzyme activity, need to test well after hemolytic episode
- problems with oxidation, so episodes with certain drugs, fava beans, infection
- also seen in unstable hemoglobins
- hgb barts, H, alpha thal
19
Q
Echinocyte
A
- multiple projects from cell membrane
- also called burr cell
- pyruvate kinase deficiency
- impaired embed hofmeyer pathway
- cannot make ATP, NAD
- but increase 2,3 DPG so good o2 carrying
- impaired embed hofmeyer pathway
- also seen in renal dz., drying artifact
20
Q
Acanthocytes
A
- More prominent but fewer projections that echinocytes
- “spur” cells
- liver disease
- post splenectomy
- McCloud syndrome (mutated Kx gene on X chromosome leads to weak Cell antigens)
- Abetalipoproteinemia
- mutated microsomal triglyceride transfer protein cannot absorb fat from food)
21
Q
Normal HgB
A
- HbA a2Beta2 globin chains, 97% in normal adult
- HbA2 a2delta2 globin chains, 3% in normal adult
- HbF a2gamma2 global chains, not in normal adult
22
Q
Hemoglobin Electrophoresis
A
- Alkaline - ph 8.5 (cellulose acetate)
- Claus Santa Fat A
- S also runs with D,G, Lapore, India, Hasheron
- C also runs with A2, E, O (“a ceo”)
- Slow running at far left - Constant Spring
- Fast moving at far right - N, I, H, Barts
- Acid - ph 6.0 (citrate agar)
- Christmas Safe A For
- HbA runs with D,A2,G,E,N,I,H, Lepore
23
Q
Sickle cell dz.
A
- point mutation in B-globulin chain
- Glutamic acid replaced by valine at position 6
- Hemolytic anemia
- auto-infarcted spleen
- vaso-occlusive crisic
- associated with renal medullary carcinoma
- Hb-F no sickling (infants, hydroxyurea txmt)
- Labs
- in SS, SA (trait), and HbC harlem
- Metabisulfate sickling test
- add Na metabisulfite (causes sickling)
- sickle solubility (dithionite solubility)
- cannot see lines in fluid, examine grossly (also SC, and trait)
24
Sickle cell disease vs. Trait
* Sickle cell dz (HbSS)
* Hb S \> 80%
* Hb F \< 20%
* Hb A2 \< 4%
* Hb A = 0
* only one band in S position on electrophoresis
* Sickle cell trait (HbAS)
* Hb S 35-45%
* Hb F \< 2%
* Hb A2 \< 4%
* Hb A 50-60%
* Two bands at S and A
* No sickling on peripheral smear
25
Hb C
* trait
* asymptomatic
* normal CVC
* target cells and crystals
* Hb C 50%, Hb A 50%
* dz.
* mild anemia, splenomegaly
* garget cells and crystals
* Hb C 90%, Hb F 3%, Hb A 0%
26
Hb S heterozygosity
* SC disease
* 50% HbS, 50% HbC
* Intermediate severity between SS and SA
* S with a-thal
* less severe
* \<35% HbS
* S with B-thal
* more severe
* \> 50% HbS
27
Target Cells
* “codocytes”
* Too much cell membrane
* HbC, E, S dz
* Liver dz.
* hyperlipidemia
* thalessemia
28
Hg E Dz.
* Mild anemia
* Thalessemia indices
* (MCV \<75, erythrocytosis RBC \> 5.5 x 10^12)
* Target cells
* common in southeast asia
* HbE runs with HbC on alkaline gel
29
Thalassemia
* Anemia from improper synthesis of one of the globin chains making up hemoglobin
* CBC
* Thalessemia indeces
* Microcytic (MCV \< 70)
* Erythrocytosis (RBC \> 5.5 x 10 ^12)
* Hb electrophoresis
* a-thalessemia (not making alpha globulins)
* Hb H = beta tetramers, Hb Barts = gamma tetramers
* Normal HbA, HbA, and HbF
* electrophoresis can be normal, or can show fast bands for H and barts
* gene deletion, better prognosis
* beta-thal (not making beta globulin)
* alpha tetramers
* electrophoresis, dec. A, increased A2 and F
* Point mutation, worse diagnosis
30
alpha-thalassemia genetics
* -a/aa - silent carrier - normal CVC, normal electrophoresis
* -a / -a - trait - Thal indices, normal electrophoresis
* - - / - a - HbH dz. - thal indices, Hb H 20%, HbA 80%
* golf ball inclusions on super vital stains
* - - / - - Hb Barts dz. - thal indices, Hb Barts 100%
* not compatible with life
* trans better than cis (trans in AA, cis in Asians)
31
Beta thalassemia
* B null cannot make any Beta chains
* B plus can make some Beta chains
* Syndromes
* Beta thal minor
* asymptomatic, mild microcytic anemia
* 94% HbA, 6% HbA2
* normal peripheral smear
* Beta thal intermedia
* not transfusion dependent
* Beta thal major
* No normal beta chain production
* Cooley's anemia, severe, transfusion dependent
* Hb F 98%, Hb A2 2%
* peripheral smear anisopoikilocytosis, nucleated abcs, target cells, tear drop cells, basophilic stippling
32
Paroxysmal Nocturnal Hemoglobinuria
* Acquired mutation in PIG-A on chromosome X
* encodes GPI anchor
* anchor serves to link many proteins to cell surface
* **CD 55 and CD 59 on flow**
* intravascular hemolysis
* complement mediated, chronic hemosidernurva, fe def.,
* thrombophilia
* marrow failuare
* aplastic anemia, aml, mds
*
33
Diagnosis of PNH
* Complement mediated RBC lysis tests
* HAM acidified serum lysis test (six test tubes look in tube 2 which is red and 5 is not red)
* sucrose lysis test
* Now use flow
* loss of **cd55, 59**, 16, 66, 14
* FLARE (florescence-labeled aerolysin binds to GPI anchor, so its decreased in PNH)
34
Aplastic Anemia
* Pancytopenia and hypo cellular bone marrow
* absolute neutrophil count \< 500/ml
* platelets \< 20 x 10^0
* reticulocytes \< 1%
* BM cellularity \< 25%
* Many causes, but mostly T-cell mediated autoimmune dz.
* tx with cyclosporin and anti T-cell treatments
* can develop MDS, PNH, or AML
35
Howell-Jolly Body
single dense inclusion in rbc
msde on DNA
seen in MDS, post splenectomy, SS Dz, ect.
36
Basophilic stippling
* punctate basophilia
* seen in lead poisoning, pyrimidine 5' nucleotides dificiency
* MDS, infusion, sideroblastic anemia
* Made of RNA
* multiple blue dots throughout the cell
37
Pappenheimer body
* multiple inclusions in RBC, usually irregularly distributed
* made of iron (positive on Fe stain)
* seen in iron overload and post splenectomy
38
Cabot Ring
* Ring shaped inclusion, can look like an 8
* microtubule, remnants of mitotic spindle
* seen in megaloblastic anemia, CDA and lead poisoning
39
Autoagglutination
* Clumping of RBCs
* May be due to cold agglutins
* IgM
* Patients with Mycoplasma, infections mononucleosis, etc.
* CBC incorrect values
* dec. RBC count
* inc. MCV
* Treat by warming
40
Congenital dyserythropoietic anemia
* CDAs are a group of rare hereditary disorders
* anima with evidence of ineffective erythroipoisis
* BM shows erythroid hyperplasia, variable internuclear bridging, budding and multi nucleation bridging
* abnormalities at birth but may not be present until middle age
* skeletal abnormalities and dysmorphic features
* Testing
* genetic testing for CDAN1 mutations
* EM for nuclear membrane changes
* CDAN1, SEC23B, CDAN3
* gigantic erythroid, bridging, various weird red cell crap.
