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Pathology - Blood Module > Thalassemia > Flashcards

Thalassemia Flashcards

1
Q

Carrier rate of thalassemia is ____

A

5-8%

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2
Q

Thalassemia is hereditary hemolytic anemia with frog like or mongoloid faces, skeletal changes and ____________ (hepatomegaly/splenomegaly)

A

Splenomegaly

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3
Q

In thalassemia there is defective synthesis of hemoglobin chain, it has s autosomal __________(dominant/recessive)

A

Recessive

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4
Q

If one of the parents is a beta thalassemia carrier so ____% children will be having beta thalassemia trait

A

50%

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5
Q

If both parents are beta thalassemia carrier then
Thalassemia _____%
Healthy _____%
Thalassemia trait _____%

A

Thalassemia 25%
Healthy 25%
Thalassemia trait 50%

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6
Q

Adult hemoglobin

___% HbA and ___% HbA2

A

98% HbA

2% HbA2

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7
Q

Chromosome 11 ———> ___ globin chain

Chromosome 16 ———> ___ globin chain

A

Chromosome 11 ———> beta globin chain

Chromosome 16 ———> alpha globin chain

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8
Q

Each cell has ____ million Hb molecules

A

640 million

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9
Q

Alpha globin chain has ___ amino acids

A

141

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10
Q

Beta globin chain has ___ amino acids

A

146

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11
Q

Delta globin is found on _____ (HbF/HbA2)

A

HbA2

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12
Q

Gamma globin is found in _____ (HbF/HbA2)

A

HbF

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13
Q

Zeta globin is found in ____ (HbE/HbC)

A

HbE (embryonic hemoglobin)

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14
Q

Gene deletion on chromosome 16p results in _______ thalassemia

A

Alpha

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15
Q

We have four genes on two chromosomes;chromosome 16(maternal and paternal) for ______globins

A

Alpha

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16
Q

We have two genes on two chromosomes;chromosome 11(maternal and paternal) for ______globins

A

Beta

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17
Q

Point mutation in chromosome 11 results in ______ thalassemia

A

Beta

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18
Q

Delta and gamma genes are found on chromosome ___

A

11

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19
Q

Zeta globin genes are found on chromosome ____

A

16

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20
Q

We have ___ (one/two) gene(s) for zeta globin on one chromosome 16

A

Two

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21
Q

If 1 gene is deleted on chromosome 16, then we call

A

Silent carrier for alpha thalassemia

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22
Q

If 2 genes are deleted on chromosome 16, then we call

A

Trait (Minor)

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23
Q

If 3 genes are deleted on chromosome 16, then we call

A

Hemoglobin H disease (intermediate)

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24
Q

If all 4 genes are deleted on chromosome 16, then we will have

A

Alpha thalassemia major (Hemoglobin bart)

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25
Q

If two genes are mutated on chromosome 11, we call it ____________

A

Beta thalassemia major (Cooley anemia)

26
Q

Whenever alpha genes are deficient, then we have excess ______ and _______ globin

A

Beta and gamma (gamma in newborns only)

27
Q

Alpha thalassemia involves three hemoglobin types.

A

HbA
HbA2
HbF

28
Q

When 4 beta globin chains form a hemoglobin molecule, we call it _____

A

HbH

29
Q

When 4 gamma globin chains form a hemoglobin molecule, we call it _____

A

Hemoglobin bart

30
Q

Alpha Thalassemia trait (two deletions) there is mild _______ _______ anemia

A

Hypochromic microcytic anemia

31
Q

Alpha thalassemia with four deletions result in _________

A

Hydrops fetalis (in utero or early neonatal death)

32
Q

Excess beta hemoglobin lead to ____________

A

Hydrops fetalis

33
Q

What does β0 mean in β-Thalassemia?

A

Complete absence of production of β-globin on the affected allele

34
Q

What does β+ mean in β-Thalassemia?

A

Some residual production of β-globin (around 10%)

35
Q

What does β++ mean in β-Thalassemia?

A

Reduction in β-globin production is very mild

36
Q

If low β chain synthesis it will lead to low amount of ____

A

HbA

37
Q

If loss of one gene in β-thalassemia (trait) then ____ (HbA2/HbF) wil increase

A

HbA2

38
Q

β-Thalassemia intermediate can have two types.

A

β0β+ or β+β+

39
Q

β-Thalassemia major have lost both gene and we can represent it by ______

A

β0β0

40
Q

How to diagnose thalassemia

A

History
Examination
Lab investigation
Screening family members

41
Q

Silent carrier of alpha thalassemia are __________

A

asymptomatic

42
Q

Alpha thalassemia minor have no anemia but __________ (microcytosis/spherocytosis)

A

microcytosis

43
Q

Alpha thalassemia intermedia (Hemoglobin H) symptoms are

A

Anemia and microcytosis
Bone deformities
Splenomegaly

44
Q

What is hemoglobin constant spring?

A

It is similar to HbH but no microcytosis
Anemia
Growth delay

45
Q

Excess free alpha globin chains undergo denaturation and form heme and hemichrome result in either in hemolysis or ineffective erythropoiesis or membrane binding of IgG and C3

A

Just remember it (β Thalassemia Pathophysiology)

46
Q

Hemolysis, ineffective erythropoiesis and membrane binding of IgG and C3 to RBCs can lead to anemia

A

Just remember it (β Thalassemia Pathophysiology)

47
Q

Anemia, high erythropoietin levels and splenomegaly causes erythroid marrow expansion

A

Just remember it (β Thalassemia Pathophysiology)

48
Q

Erythroid marrow expansion leads to skeletal deformities, osteopenia and iron overload.

A

Just remember it (β Thalassemia Pathophysiology)

49
Q

β Thalassemia Major patient present at the age of ______

A

4-6 months or child younger than 2 years

50
Q

β Thalassemia Intermedia presents at ______ age

A

later

51
Q

What are some clinical features of β Thalassemia major

A

Anemia
Hepatosplenomegaly
Growth failure

52
Q

Thalassemia facies and hepatosplenomegaly (due to extramedullary hematopoiesis) are features of ______________

A

β Thalassemia intermedia

53
Q

Hb lower than 7g/dL and HbF more than 90% suggests the patient is β Thalassemia ________ (Major/Intermedia/trait)

A

β Thalassemia major

54
Q

HbA is usually ___________ (absent/lower/higher) in β Thalassemia major patients

A

absent

55
Q

HbA2 is normal or _______ (low/high) in β Thalassemia major patients

A

high

56
Q

Hb in range of 8-10g/dL and HbF more than 10% suggests the patient has β Thalassemia ________ (Major/Intermedia/trait)

A

Intermedia

57
Q

HbA2 is 4-9% and HbA is 5-90%, the patient is having β Thalassemia ________ (Major/Intermedia/trait)

A

Intermedia

58
Q

If Hb is more than 10g/dL and HbF is 2.5-5% then the patient is said to have β Thalassemia ________ (Major/Intermedia/trait)

A

Trait

59
Q

In β Thalassemia trait, MCH is more than ____ pg

A

27

60
Q

HbA is more than 90% in people with β Thalassemia ________ (Major/Intermedia/trait)

A

Trait (21:27)

Pathology - Blood Module (20 decks)

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