Red Cell Disorders Flashcards

1
Q

Microcytic Anemia

A

Low MCV (<80)
Iron deficiency anemia
Anemia of chronic disease
Thalassemia
Sideroblastic anemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Macrocytic Anemia

A
  • MCV > 100
  • Megaloblastic
    • b12 and folate deficiency
  • Non megaloblastic
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

MCH

A

Mean Corpuscular Hemoglobin

hb/rbc

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

MCHC

A

Mean corpuscular hemoglobin concentration

hb/hct

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Ferritin

A

in increased with inflammation, so be careful.

look at saturation instead

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
    *
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
  • 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
Q

Sickle cell disease vs. Trait

A
  • 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
Q

Hb C

A
  • 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
Q

Hb S heterozygosity

A
  • 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
Q

Target Cells

A
  • “codocytes”
  • Too much cell membrane
  • HbC, E, S dz
  • Liver dz.
  • hyperlipidemia
  • thalessemia
28
Q

Hg E Dz.

A
  • 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
Q

Thalassemia

A
  • 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
Q

alpha-thalassemia genetics

A
  • -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
Q

Beta thalassemia

A
  • 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
Q

Paroxysmal Nocturnal Hemoglobinuria

A
  • 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
Q

Diagnosis of PNH

A
  • 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
Q

Aplastic Anemia

A
  • 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
Q

Howell-Jolly Body

A

single dense inclusion in rbc

msde on DNA

seen in MDS, post splenectomy, SS Dz, ect.

36
Q

Basophilic stippling

A
  • punctate basophilia
  • seen in lead poisoning, pyrimidine 5’ nucleotides dificiency
  • MDS, infusion, sideroblastic anemia
  • Made of RNA
  • multiple blue dots throughout the cell
37
Q

Pappenheimer body

A
  • multiple inclusions in RBC, usually irregularly distributed
  • made of iron (positive on Fe stain)
  • seen in iron overload and post splenectomy
38
Q

Cabot Ring

A
  • Ring shaped inclusion, can look like an 8
  • microtubule, remnants of mitotic spindle
  • seen in megaloblastic anemia, CDA and lead poisoning
39
Q

Autoagglutination

A
  • 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
Q

Congenital dyserythropoietic anemia

A
  • 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.