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Liz's Hematology Module 1 > Thalassemia Syndromes > Flashcards

Thalassemia Syndromes Flashcards

1
Q

Hb molecule defect found in thalassemia

A

Deficient synthesis of alpha- or beta-globin chains

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2
Q

Suspected reasoning for (same) geographic distribution pattern that coincides w/ the incidence of malaria and heterzygous state(s) of thalassemia syndromes

A

Gene defect

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3
Q

3 normal adult hemoglobins

A
  • Hb A
  • Hb A2
  • Hb F
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4
Q

Globin chain composition and percentage of Hb A

A

2 alpha
2 beta
> 95%

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5
Q

Globin chain composition and percentage of Hb A2

A

2 alpha
2 delta
1.5-3.0%

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6
Q

Globin chain composition and percentage of Hb F

A

2 alpha
2 gamma
=

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7
Q

Globin chain composition of Beta0 thalassemia

A

Complete absence of beta chain composition

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8
Q

Globin chain composition of Beta+ thalassemia

A

Reduced production of beta chains

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9
Q

Globin chain composition of alpha0 thalassemia

A

No alpha chain production

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10
Q

4 genetic possibilities that may occur w/ alpha thalassemia

A

alpha0 → no alpha chain production
1 functioning alpha chain (Hb H)
2 functioning alpha chains (alpha thal trait)
3 functioning alpha chains (“silent carrier”)

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11
Q

Beta-thalassemia Major

- Clinical features and course of disease

A
  • Severe hemolytic anemia… strong stimulus for erythropoiesis
  • “hair on end” appearance in skull Xrays
  • Expansion of BM in skull causes jaw bone to jut out…deform head
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12
Q

Beta-thalassemia Major

- Ethnic distribution

A

Mediterranean and SE Asia

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13
Q

Beta-thalassemia Major

- Clinical features and course of disease

A
  • Severe hemolytic anemia… strong stimulus for erythropoiesis
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14
Q

Beta-thalassemia Major

- CBC results

A

Too many RBCs for Hb

- Can’t maintain Hb > 7 g/dL

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15
Q

Beta-thalassemia Major

- BM exam

A

↑ BM iron stores

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16
Q

Beta-thalassemia Major

- Hb ELP pattern

A

Hb F (↑) > A2 (↑)

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17
Q

Beta-thalassemia Major

- Treatment

A
  • Regular transfusions
  • Iron chelation therapy (prevent iron overload)
  • Splenectomy
  • Diet restrictions (heme)
  • Give vit B12 and folate
  • BM transplant is definitive
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18
Q

2 mechanisms responsible for early RBC destruction seen in beta-thalassemia major

A
  1. Cells in BM (w/ Heinz bodies) leads to ↑↑↑ ineffective erythropoiesis
  2. Cells in circulation (w/ Heinz bodies) leads to ↑↑↑ intravascular hemolysis
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19
Q

Why do patients w/ beta-thalassemia major have the “hair on end” appearance in skull x-rays and mongoloid appearance to face

A

Expansion of BM in skull

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20
Q

Beta-thalassemia minor

- Pathology

A
  • Reduced rate of beta chain production
  • imbalance results in ppt of excess alpha chains → Heinz bodies
  • Milder form of hemolytic and M/H anemia (than thal major)
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21
Q

Beta-thalassemia minor

- Ethnic origin

A

Mediterranean area, SE Asia, black population of West and North Africa

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22
Q

Beta-thalassemia minor

- Clinical features and course of disease

A
  • Usually presented as mild, asymptomatic hemolytic anemia
  • Stressful event may evoke a hemolytic episode
  • May present w/ slight splenomegaly
  • Patient has normal lifespan
23
Q

Beta-thalassemia minor

- CBC results

A
  • Too many RBCs for Hb

- Maintain Hb b/w 10-13 g/dL

24
Q

Beta-thalassemia minor

- RBC morphology

A

More mild morphology

  • slight hypochromasia, slight polychromasia, slight microcytosis
  • B.S., Heinz bodies
  • occasional nRBCs
25
Q

Beta-thalassemia minor

- Retic count

A

Slightly ↑ retic count

26
Q

Beta-thalassemia minor

- BM exam

A

↑ BM iron stores??

27
Q

Beta-thalassemia minor

- Hb ELP pattern

A

A > A2 (↑) > F (↑)

28
Q

Beta-thalassemia minor

- Treatment

A

Not usually required

29
Q

Hydrops Fetalis Syndrome, aka ____

A

alpha0-thalassemia

30
Q

Hydrops Fetalis Syndrome

- Pathology of Hb molecule

A

Cannot carry O2; cannot carry O2 → infant dies in utero or shortly after delivery

31
Q

Hydrops Fetalis Syndrome

- Globin chain makeup

A

Bart’s = 4 gamma

32
Q

Hydrops Fetalis Syndrome

- Ethnic distribution

A

SE Asia and Filipino population

33
Q

Hydrops Fetalis Syndrome

- Compatibility w/ life

A

Unlikely

34
Q

Hydrops Fetalis Syndrome

- Hb ELP pattern

A

Bart’s > Portland

35
Q

Hb H

- Pathlogy of Hb molecule

A

Mild to severe, chronic hemolytic anemia

36
Q

Hb H

- Globin chain makeup

A

4 beta chains

37
Q

Hb H

- Unusual characteristic of Heinz bodies

A

“Pitted golf ball” or “raspberry”

38
Q

Hb H

- Hb ELP pattern

A

H > A > A2 > Bart’s

39
Q

Hb Lepore

- Pathology of Hb molecule

A

Clinically and morphologically like a beta thal major

40
Q

Hb Lepore

- Globin chain makeup

A

Fused delta and beta chain

- No Hb A/A2 produced

41
Q

Hb Lepore

- Hbs being produed in homozygous state

A

F (~80%) + Lepore (~20%)

42
Q

Hereditary Persistence of Hb F (HPHF)

A

Persistence of fetal Hb in adult life (benign); gamma → beta switch does not occur

43
Q

HPHF

- Homozygous state

A

100% Hb F

44
Q

HPHF

- Heterozygous state

A

A > Hb F (15-30%)

45
Q

Kleihaur-Betke stain

- Principle

A

Assess distribution of Hb F in RBC; mainly performed to determine if an excessive feta-maternal bleed occurred during delivery (and extra Rhogam is required)

46
Q

Kleihaur-Betke stain

- Normal values

A

?

47
Q

Kleihaur-Betke stain

- Staining pattern w/ HPHF

A

Hb F in each cell is constantly stained (dark pink)

48
Q

Kleihaur-Betke stain

- Staining pattern w/ hemoglobinopathies (other than HPHF)

A

Hb F present in varying amounts; staining inconsistent (“speckled”)

49
Q

Kleihaur-Betke stain

- Appearance of Hb A (adult) cells on smear

A

Hb A is NOT resistant to acid elution test → “ghost cells”

50
Q

Kleihaur-Betke stain

- Appearance of Hb F (fetal) cells on smear

A

Hb F is resistant to acid elution test → cells stain dark pink

51
Q

Kleihaur-Betke stain, aka ____

A

Acid elution stain

52
Q

Beta0 thalassemia

A

Cooley’s anemia

53
Q

Beta+ thalassemia

A

Cooley’s trait

54
Q

Excessive growth of immature RBCs

A

Erythroid hyperplasia

Liz's Hematology Module 1 (15 decks)

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