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Blood and Lymph > Thalassemia > Flashcards

Thalassemia Flashcards

1
Q

In ____, the β-globin chain is underproduced.

A

β-thalassemia

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2
Q

What are the 3 main treatments of thalassemia?

A

1) transfusions 2) Increase Fetal Hemoglobin (α2γ2) Production 3) bone marrow transplants

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3
Q

In β-thalassemia, the _____ is underproduced.

A

β-globin chain

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4
Q

What is the genotype of Hemoglobin H disease?

A
    • / - alpha
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5
Q

When are gamma chains produced?

A

in the fetus and newborn

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6
Q

What is the genotype for β-thalassemia major (Cooley’s Anemia)?

A

2 severely abnormal or absent genes

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6
Q

Hypothyroidism and/or impaired glucose tolerance may occur in 40-60% of patients with ____.

A

β-thalassemia major

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7
Q

What are some skeletal changes seen in thalassemias?

A

frontal bossing, osteopenia, marrow filled with RBC precursors

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7
Q

Name 3 drugs that induce HbF production.

A

Hydroxyurea, butyrate, and decitabine

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8
Q

What is the most common chelation agent?

A

deferoxamine

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9
Q

What is the genotype for β-thalassemia minor (β-thalassemia trait)?

A

1 normal and 1 abnormal gene

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9
Q

Nearly ___ of patients with Cooley’s anemia (β-thalassemia major) have abnormal endocrine function.

A

2/3

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9
Q

Hypothyroidism and/or impaired glucose tolerance may occur in ____ of patients with β-thalassemia major.

A

40-60%

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10
Q

What is the cause of alpha-thalassemia?

A

underproduction of the alpha-globin chain bc of an absence of one of the 4 alpha genes

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11
Q

What is deferoxamine?

A

the most common chelation agent

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12
Q

What is the genotype for HbEβothalassemia?

A

1 severely abnormal or absent Beta gene and 1 HbE gene

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13
Q

What is hemoglobin A1?

A

the predominant adult hemoglobin; alpha2beta2

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13
Q

What gland is often most affected in Cooley’s anemia?

A

the pituitary

15
Q

Which alpha thalassemia shows anemia?

A

hemoglobin H disease

16
Q

Which alpha thalassemia is transfusion dependent?

A

hemoglobin H disease

17
Q

_____ and/or _____ may occur in 40-60% of patients with β-thalassemia major.

A

Hypothyroidism; impaired glucose tolerance

18
Q

What is the genotype of hydrops fetalis?

A
    • / - -
19
Q

Nearly 2/3 of patients with _____ have abnormal endocrine function.

A

Cooley’s anemia (β-thalassemia major)

20
Q

What is the genotype for HbEβ+thalassemia?

A

1 mild-moderately abnormal Beta gene and 1 HbE gene

21
Q

What peripheral smear presentation can be confused with thalassemia trait?

A

iron deficiency anemia

23
Q

What is the genotype of alpha-thalassemia silent carrier?

A
  • alpha/ alpha alpha
24
Q

What is the 20 year survival rate for thalassemics receiving a bone marrow transplant?

A

70%

25
Q

Nearly 2/3 of patients with Cooley’s anemia (β-thalassemia major) have _____.

A

abnormal endocrine function

26
Q

What cures thalassemia?

A

a bone marrow transplant

28
Q

What is the genotype for Hb EE disease?

A

2 HbE genes

29
Q

What is the genotype for β-thalassemia intermedia?

A

2 mild-moderately abnormal genes

30
Q

Which beta thalassemia is always transfusion dependent?

A

β-thalassemia major (Cooley’s Anemia)

32
Q

What is Hemoglobin E?

A

an abnormal, unstable hemoglobin due to a point mutation in the beta-globin gene

33
Q

How is thalassemia diagnosed?

A

hemoglobin separation or genetic testing

34
Q

What are the normal adult globin chains?

A

alpha with either beta and/or delta

35
Q

What are the 2 common types of thalassemia?

A

alpha and beta

36
Q

What is deferasirox?

A

an oral chelator w/ prelim. approval in the US

37
Q

What is the problem with deferoxamine?

A

pt noncompliance- 5-7 admins/day

38
Q

What is thalassemia?

A

underproduction of a hemoglobin chain due to mutations

39
Q

What is the genotype of alpha-thalassemia trait?

A
    • / alpha alpha or - alpha/ - alpha
40
Q

What is the MCV for beta-thalassemias?

A

low

42
Q

Which alpha thalassemia has low MCV?

A

alpha-thalassemia trait and hemoglobin H disease

43
Q

What are hydroxyurea, butyrate, and decitabine used for?

A

to induce HbF production

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