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CR2 > Hemoglobinopathies > Flashcards

Hemoglobinopathies Flashcards

1
Q

Haemoglobin

A

Red oxygen carrying pigment

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2
Q

What does mean corpuscular haemoglobin show

A

Amount of Hb per RBC

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3
Q

What does mean corpuscular haemoglobin concentration show

A

Amount of Hb per unit volume

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4
Q

How many subunits in Hb

A

4 - tetramer

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5
Q

2 parts of Hb subunits

A

Haem
Globin

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6
Q

How many porphyrin rings in Haem

A

4

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7
Q

Which 6 atoms chelate iron in Haem

A

4 N
2 histidine

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8
Q

What is Hb metabolised to

A

Bilirubin

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9
Q

Products of alpha globin genes

A

Alpha globin chain
Zeta globin chain

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10
Q

Products of beta globin cluster genes

A

Epsilon globin
Gamma globin
Delta globin
Beta globin

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11
Q

Location of alpha globin gene cluster

A

Chromosome 16
Short arm position 13.3

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12
Q

How many functional genes in alpha globin gene cluster

A

3

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13
Q

Location of beta globin gene cluster

A

Chromosome 11
Short arm position 15.4

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14
Q

How many active genes in beta globin cluster

A

5

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15
Q

Which organs are Hb synthesised in in gestation

A

Yolk sac
Liver
Spleen

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16
Q

Where is Hb synthesised after birth

A

Bone marrow

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17
Q

When does the embryonic to foetal haemoglobin switch occur

A

6 wks gestation

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18
Q

Types of embryonic haemoglobin

A

Hb gower 1
Hb gower 2
Hb Portland

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19
Q

Which Hb is 2 zeta 2 epsilon

A

Gower 1

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20
Q

Which Hb is 2 alpha 2 epsilon

A

Gower 2

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21
Q

Which Hb is 2 zeta 2 gamma

A

Portland

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22
Q

Which subunits are in foetal haemoglobin

A

2 alpha 2 gamma

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23
Q

Where is HbF made

A

Liver
Spleen

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24
Q

When is HbF made

A

6 wks gestation - first few months after birth

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25
Q

Does adult or foetal Hb have a higher O2 affinity

A

HbF

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26
Q

When does HbA start being synthesised

A

40 wks gestation
Replaces HbF gradually at 3-6mo after birth

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27
Q

What globin chains are in HbA2

A

2 alpha 2 delta

28
Q

Haemoglobinopathy

A

Group of genetic disorders involving the globin chains of the Hb complex

29
Q

What are the 2 main groups of haemoglobinopathy

A

Abnormal globin structure
Abnormal globin production

30
Q

What causes haemoglobinopathies

A

Mutations or deletions in globin genes

31
Q

Which haemoglobinopathies cause abnormal globin chain production

A

Thalassaemias

32
Q

Thalassaemia inheritance

A

Autosomal recessive

33
Q

What does deletion of HbA1 and HbA2 genes cause

A

Alpha Thalassaemias

34
Q

What do mutations in HBB genes cause

A

Beta Thalassaemias

35
Q

4 types of alpha thalassaemia

A

Alpha thalassaemia major
Hb H disease
Alpha thalassaemia minor
Alpha thalassaemia minima

36
Q

What genetic abnormality causes alpha thalassaemia major

A

Deletion of 4 alpha globin genes

37
Q

Why is alpha thalassaemia major incompatible w life

A

No alpha globin synthesised so Hb contains Portland and non functional gamma tetramers (Hb Bart’s)

38
Q

What is caused by deletion of 3 alpha genes

A

Hb H disease

39
Q

What is haemoglobin H

A

Tetramer of beta globin formed in Hb H disease from excess beta globin

40
Q

Which types of alpha thalassaemia cause Microcytic Hypochromic anaemia

A

Hb H disease
Alpha thalassaemia minor

41
Q

What condition is caused by 2 missing alpha genes

A

Alpha thalassaemia minor

42
Q

Which type of alpha thalassaemia creates normal Hb production and no symptoms

A

Alpha thalassaemia minima

43
Q

What types of alpha Thalassaemias are carriers

A

Alpha thalassaemia minor
Alpha thalassaemia minima - silent carrier

44
Q

Does beta thalassaemia have quantitative or qualitative effects on beta globin

A

Quantative

45
Q

What happens to excess alpha globin subunits in beta thalassaemia

A

Forms insoluble aggregates

46
Q

What are the 3 types of beta thalassaemia

A

Beta thalassaemia minor / trait
Beta thalassaemia intermediate
Beta thalassaemia major

47
Q

How does beta thalassaemia cause anaemia

A

Ineffective erythropoiesis and haemolysis due to excess alpha chain precipitates

48
Q

Where do excess alpha chains precipitate in beta thalassaemia

A

RBCs
RBC precursors

49
Q

Effects of beta thalasssaemia

A

Ineffective erythropoiesis
Haemolysis
Bone marrow expansion
Increase GI iron absorption

50
Q

How does thalassaemia effect MCV

A

Decrease

51
Q

How does thalassaemia effect serum iron, serum ferritin, tibc, and bone marrow iron

A

No effect

52
Q

Are RBCs macro micro or Normocytic in Thalassaemia

A

Microcytic

53
Q

Thalassaemia treatment

A

Regular blood transfusions
Iron chelation therapy
Splenectomy
Allergenic bone marrow transplant

54
Q

Which amino acids are switched in haemoglobin s

A

Hydrophilic glutamic acid replaced by hydrophobic valine

55
Q

Which codon is GAG replaced by in haemoglobin s

A

GTG

56
Q

How is sickle cell anaemia inherited

A

Autosomal recessive

57
Q

Why does Hb S polymerise

A

Hydrophobic section created by substituted valine sticks to hydrophobic region on adjacent Hb

58
Q

Does sickle cell anaemia effect beta or alpha globin

A

Beta

59
Q

Which position on beta globin does the substitution occur in HbS

A

6

60
Q

What causes RBC membrane damage in sickle cell anaemia

A

Repeated sickling and unsickling between normal shaped oxy state and sickled deoxy state

61
Q

Vasoocclusive crises

A

Sickle cells obstruct capillaries and restrict blood flow to an organ causing ischaemia, pain, and organ damage

62
Q

What causes haemolytic anaemia, and jaundice in sickle cell anaemia

A

Destruction of sickled RBCs

63
Q

Consequences of sickle cell disease

A

Haemolytic anaemia
Increased infection susceptibility
Vaso occlusive crises
Chronic tissue damage

64
Q

Sickle cell disease management

A

Antibiotic prophylaxis
Analgesics for vasoocclusive crises
Blood transfusions
Hydroxyurea
Bone marrow transplants

65
Q

Why are antibiotics used prophylactically in SCD

A

Infection increases O2 demand, increasing vasooclusive crises

66
Q

How does hydroxyurea help SCD

A

Increases HbF
Reduces crises

CR2 (33 decks)

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