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Tim's CP Board Review > RBCS > Flashcards

RBCS Flashcards

1
Q

Mentzer index

A

Metric to distinguish thalassemias from IDA

MCV / RBC ; if <13, likely thalassemia

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2
Q

Calculations: HCT, MCH, MCHC

A

HCT: RBC*MCV
MCH: HGB/RBC
MCHC: HGB/HCT

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3
Q

Iron deficiency anemia

A

Elevated transferrin and TIBC (most sensitive marker)
Decreased ferritin (in later disease)
Decreased %sat

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4
Q

Anemia of chronic disease

A

Decreased transferrin and TIBC

Increased ferritin

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5
Q

Sideroblastic anemia

A

Causes: Alcohol, toxins, abnormalities of ALA-S. MDS

High iron, ferritin due to failure of incorporation
Elevated ZPP?

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6
Q

Megaloblastic anemias - Causes

A

B12 deficiency - More common, especially in pernicious anemia (parietal cell antibodies sensitive, IF antibodies specific)

Folate deficiency - Quite rare due to widespread supplementation

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7
Q

Megaloblastic anemias - Labs

A

Elevated homocysteine
Elevated methylmalonic acid (B12 only)
Low serum or RBC folate (folate only)

Schiling test: Oral + Injected&raquo_space; Replace IF, then enzymes, then Abx.

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8
Q

Hereditary spherocytosis

A

Ankyrine mutations

Increased osmotic fragility

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9
Q

Hereditary elliptocytosis

A

Spectrin, band 4.1 mutations.

Increased osmotic fragility

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10
Q

Stomatocytes - Causes

A

Rh null
Defect of Na/K transporter
Liver, renal disease

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11
Q

G6PD deficiency

A

XLD, associated with heinz (Hb) bodies, bite cells.

Allele variants: B (normal), A (diseased)

Dx: Fluoro spot test, G6PD enzyme levels

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12
Q

Pyruvate kinase deficiency

A

1 glycolytic pathway defect (still rare). AutRec

Numerous echinocytes. Elevated NADH, 2,3-DPG

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13
Q

Acanthocytes

A

Associated with McLeod, abetalipoproteinemia

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14
Q

Alkaline hemoglobin gel electrophoresis

A

Pattern: CSFA+ (pH 8.5)
C band: A2CEO
S band: SDG, Lepore?
HbH fast, constant spring slow

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15
Q

Acid gel electrophoresis

A

Pattern: CSAF- (pH6.0)

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16
Q

SCD testing

A

Metabisulfite test: Add reagent, examine microscopically for sickle cells.

Dithionate solubility: Add reagent to a HEMOLYSATE, observe turbidity due to tactoid body formation.
*also picks up HbC-Harlem

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17
Q

SCD variant patterns

A

HbSS: >50% S, 20% F, 4% A2
Sickle trait: 50% A1, little A2 or F
S+Alpha: 35% S, mild phenotype
S+Beta: >50% S, severe phenotype

18
Q

Variant Hb, other than S

A

HbE: Southeast asians, associated with mild microcytic anemia.
HbH: Beta-tetramer, “golf-ball” on supravital stains
Hb Barts: Gamma-tetramer, ineffectual
Lepore: Beta-delta fusion

19
Q

PNH - Markers

A

RBC: CD55/59
Monocytes: CD14
Granulocytes: CD16/66, FLAER

20
Q

PNH - Diagnosis

A

Ham serum lysis test: 6 beakers, containing patient serum and either patient or control RBCs. Acidification of serum should lyse patient but not control RBCs.

Sucrose lysis: Cheap screening assay, nonspecific

Flow: Gold standard.

21
Q

RBC inclusions and composition

A 
Howell-Jolly bodies: Nuclear remnant
Heinz bodies: Denatured hemoglobin
Basophilic stuppling: RNA
Pappenheimer bodies: Iron
Cabot rings: Microtubules
Dohle bodies: Ribosomes, rER
22
Q

Congenital dyserythropoietic anemias

A

I (CDAN1): Chromatin bridging, twin erythroblasts
II (SEC23B): MOST COMMON. HEMPAS. Binucelation
III (CDAN3): Gigantoblasts

23
Q

Delta-beta trait

A

Presents like beta-thalassemia. Homozygosity&raquo_space; microcytic, hypochromic anemia

Normal HbA2, elevated HbF.

24
Q

Cyanmethemoglobin quantitation method

A

React Hb with ferricyanide to form metHb (540nm). Detects all variants except sulfhemoglobin.

25
Q

Osmotic fragility testing

A

Expose cells to hypotonic saline solution

Increased fragility: Anything with decreased SA:volume
Decreased fragility: Thalassemias, IDA, SCD, HbC

26
Q

Hypothyroidism

A

Causes macrocytic anemia!

27
Q

HbSC - Peripheral smear findings

A

Rare sickle cells
Target cells
“Taco cells” / “Clam shell cells”

28
Q

Acute intermittent porphyria

A

Deficiency of uroporphyrinogen I synthetase.

ALA accumulates, but no tetrapyrrole rings, so no photosensitivity.

Psych symptoms.

29
Q

Reticulocyte counting

A

Usually automated: Based on optical properties on coulter analysis.

Manual: Requires supravital dye, count 1000+ cells.

30
Q

Erythropoietic protoporphyria

A

Caused by ferrocheletase deficiency. Protoporphyrin IX accumulates.

Photosensitive rash.

31
Q

What conditions cause elevation of HbA2?

A

Beta-thalassemia
B12/folate deficiency?
Hyperthyroidism?
Antiretroviral therapy?

32
Q

Neonatal MCV

A

Starts high (>100fL), then nadirs at 6mo (75fL), then rises to normal/expected levels.

33
Q

Secondary polycythemias

A

Renal transplant
High affinity hemoglobinopathies (incl acquired, eg CO)
Cyanotic heart disease
Renal tumors

34
Q

RI, RPI

A

RI: %retic x (Hct/nmlHct)
RPI: (%retic x Hct) / (nmlHct x CF)
*CF starts at 1.0 for Hct >35%, maxes at 2.5 for Hct <15%

35
Q

Hereditary persistence of fetal hemoglobin

A

Heterozygotes: 2-15% HbF

Homozygotes: 100% HbF

36
Q

LAP scores

A

High: Leukemoid

Low: CML, PNH

37
Q

Fanconi anemia

A

Defective DNA repair. AutRec, polygenic.

Short stature, cafe au lait spots, abnormal thumbs/radii.
Bone marrow failure, many cancers.

38
Q

Dyskeratosis congenita

A

Inherited neutropenia

Triad of oral leukoplakia, lacy reticular skin pigmentation, and nail dysgenesis

39
Q

Diamond-Blackfan anemia

A

RPS19 abnormality

Normal bone marrow cellularity; just isolated anemia. No dysplasia.
Short stature, thumb shit, craniofacial abnormalities.

40
Q

Schwachman-Diamond Syndrome

A

SBDS mutations&raquo_space; Neutropenia

Chromosome 7 abnormalities

Also pancreatic insufficiency, skeletal abnormalities..

Tim's CP Board Review (16 decks)

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