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Mercy CLS 6: Hematology > 10) Hemoglobinopathies & thalassemias > Flashcards

10) Hemoglobinopathies & thalassemias Flashcards

1
Q

hemoglobinopathy

A

defect in structure of globin chain

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2
Q

thalassemia

A

decreased rate of globin chain synthesis

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3
Q

2 alpha 2 beta

A

Hgb A

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4
Q

2 alpha 2 delta

A

Hgb A2

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5
Q

2 alpha 2 gamma

A

Hgb F

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6
Q

2 zeta 2 epsilon

A

Gower 1

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7
Q

2 alpha 2 epsilon

A

Gower 2

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8
Q

2 zeta 2 gamma

A

Portland

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9
Q

𝛼2β2 6 val

A

Hgb S

valine replaces glutamic acid on Beta

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10
Q

conditions under which sickling may occur in sickle trait

A

anesthesia
strenuous exercise

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11
Q

when does Hgb S sickle?

A

physiological oxygen tensions
deoyxgenation makes cell susceptible to sickling

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12
Q

3 factors sickling depends on

A
  • degree of oxygenation
  • pH
  • dehydration
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13
Q

main cause of anemia in sickle cell anemia

A

extravascular hemolysis
spleen lyses fragile Hgb S cells

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14
Q

Hgb S cell lifespan

A

14 days

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15
Q

explain sickle cell crises

A

vaso-occlusion in capillaries
lower oxygen levels increase sickling
other blood cells & coagulation cascade activated
cell masses obstruct vessels can cause necrosis

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16
Q

adults tend to have autosplenectomy due to infarction, so splenomegaly is rare

A

sickle cell

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17
Q

what do inclusions on a PB smear of a sickle cell pt indicate?

A

autosplenectomy

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18
Q

complications of sickle cell

A
  • growth of hands, hips, arms, legs affected
  • lung and abdominal infarcts
  • hepatomegaly
  • leg ulcers near ankles
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19
Q

cell found on virtually any hemoglobinopathy smear, even a heterozygous trait

A

target cells

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20
Q

sickle cell disease on PB

A
  • sickle cells
  • target cells
  • nRBCs
  • polychromasia
  • aniso & poik
  • leukocytosis with left shift
  • HJ bodies
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21
Q

sickle cell disease lab results

A
  • low H&H
  • ↓ osmotic fragility
  • positive sickle solubility test (except newborns)
  • Hgb electrophoresis—no A, mostly S, increased A2 and F
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22
Q

sickle cell disease tx

A
  • pain relief
  • rehydration
  • antibiotics for secondary infections
  • exchange transfusions
  • hydroxyurea (↑ Hgb F)
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23
Q

𝛼2β2 6 lys

A

Hgb C

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24
Q

usually asymptomatic but may experience joint and abd pain, and splenomegaly

A

Hgb C disease

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25
Q

Hgb C disease on PB

A
  • Hgb C crystals
  • target cells
  • aniso
  • folded/convoluted RBCs
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26
Q

Hgb C disease RBC lifespan

A

30-55 days

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27
Q

𝛼2 βS βC

A

Hgb S/C

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28
Q

sickling and crystal formation

A

Hgb S/C

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29
Q

symptoms like mild sickle cell, with prominent splenomegaly

A

Hgb S/C disease

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30
Q

Hgb S/C on PB

A
  • normo/normo
  • Hgb concentrated on one side of cell “billiard balls”
  • small, dense, misshapen cells with crystals
31
Q

𝛼2β2 121 gln

A

Hgb D

32
Q

most common in Indians
also African Americans

A

Hgb D

33
Q

hemoglobinopathy requiring acid electrophoresis to distinguish, because the 2 bands migrate together

A

Hgb S/D

34
Q

𝛼2β2 26 lys

A

Hgb E

35
Q

most common in Southeast Asians as well as African Americans

A

Hgb E

36
Q

2nd most prevalent hemoglobinopathy worldwide

A

Hgb E

37
Q

↓ oxygen affinity of a given Hgb —– the effects of anemia

A

↓

38
Q

hemoglobinopathy that may protect against malaria

A

Hgb E

39
Q

Hgb E on PB

A
  • micro/hypo
  • target cells
40
Q

most clinically significant types of thalassemia

A

those affecting alpha or beta chains

41
Q

Thalassemia phenotype

βO/βO

O means absent

A

β-thalassemia major

42
Q

Thalassemia phenotype

βO/B+

A

β-thalassemia major/intermedia

43
Q

Thalassemia phenotype

β+/β+

A

β-thalassemia major/intermedia

44
Q

Thalassemia phenotype

βO/β

A

β-thalassemia intermedia/minor

45
Q

Thalassemia phenotype

β+/β

A

β-thalassemia minor

46
Q

Thalassemia phenotype

βSC/β

A

β-thalassemia minima
(silent carrier)

47
Q

Cooley’s anemia

A

β-thalassemia major

48
Q

attempts to compensate for β-thalassemia major, but has a higher affinity for O2

A

Hgb F

49
Q

what happens to excess alpha chains in beta thalassemia?

A

form 𝛼4 aggregates
precipitate in normoblast, damaging membrane
causes severe chronic hemolytic anemia

50
Q

occurs in infants as failure to thrive
jaundice
hepatosplenomegaly

A

β-thalassemia

around time of switch from 𝛾 to β chains

51
Q

manifestations of β-thalassemia

A
  • infant failure to thrive
  • jaundice
  • hepatosplenomegaly
  • siderosis
  • “hair on end” bone structure
  • thick jaw, concave nose
52
Q

β-thalassemia CBC

A
  • low H & H
  • micro/hypo
  • MCV in 50s or 60s
  • retics normal or low
  • RBCs may be elevated
53
Q

β-thalassemia on PB

A
  • target cells
  • micro/hypo
  • marked aniso, poik
  • nRBCs
  • variable basophilic stippling
  • polychromasia
54
Q

micro/hypo anemia with slightly decreased hgb, MCV in 50-70 range, and high RBC count (>5)

A

β-thalassemia minor

55
Q

homozygotes have 100% Hgb F
micro/hypo anemia

A

𝜹β-thalassemia

56
Q

hereditary persistence of fetal hemoglobin is a form of…

A

β-thalassemia

57
Q

100% Hgb F with ↑ RBC count and ↑ Hgb

A

HPFH

58
Q

2 types of HPFH on Kleihauer-Betke stain
populations associated

A
  • Pancellular - most RBCs contain Hgb F - Black and Greek pop
  • Heterocellular - 3% RBCs contain Hgb F - Swiss pop
59
Q

normal 𝛼 chain combined with abnormal 𝜹β chain resulting from genetic crossover

A

Hgb Lepore

60
Q

how does Hgb Lepore lead to anemia?

A

𝜹β chain is synthesized at a slow rate, leading to hematologic changes that resemble thalassemia

61
Q

major Hgb seen with Hgb Lepore disease

A

Hgb F

62
Q

tx for β-thalassemias

A
  • splenectomy
  • regular transfusions
  • iron chelating agents
63
Q

4 clinical phenotypes of 𝛼-thalassemia

A
  • hydrops fetalis
  • Hgb H disease
  • 𝛼-thal minor
  • silent carrier
64
Q

Thalassemia phenotype

(–/–)

A

hydrops fetalis

65
Q

Thalassemia phenotype

(–/-𝛼)

A

Hgb H disease

66
Q

Thalassemia phenotype

(–/𝛼𝛼)
(-𝛼/-𝛼)

A

𝛼-thal minor

67
Q

Thalassemia phenotype

(-𝛼/𝛼𝛼)

A

silent carrier

68
Q

𝛾4

(no 𝛼 to combine with)

A

Hgb Barts
sickling Hgb

69
Q

population associated with hydrops fetalis

A

Asian

70
Q

β4
(no 𝛼 to combine with)

A

Hgb H

71
Q

Hgb H disease on PB

A
  • micro/hypo
  • target cells
  • ↑ retic
  • nRBCs
72
Q

inclusions can be seen by staining with brilliant cresyl blue, showing golf ball appearance

A

Hgb H

73
Q

MCV 50-60
RBC >5
occasional Hgb H inclusions

A

𝛼-thal minor

Mercy CLS 6: Hematology (25 decks)

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