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Hemoglobinopathies Flashcards

(66 cards)

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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
Does adult or foetal Hb have a higher O2 affinity
HbF
26
When does HbA start being synthesised
40 wks gestation Replaces HbF gradually at 3-6mo after birth
27
What globin chains are in HbA2
2 alpha 2 delta
28
Haemoglobinopathy
Group of genetic disorders involving the globin chains of the Hb complex
29
What are the 2 main groups of haemoglobinopathy
Abnormal globin structure Abnormal globin production
30
What causes haemoglobinopathies
Mutations or deletions in globin genes
31
Which haemoglobinopathies cause abnormal globin chain production
Thalassaemias
32
Thalassaemia inheritance
Autosomal recessive
33
What does deletion of HbA1 and HbA2 genes cause
Alpha Thalassaemias
34
What do mutations in HBB genes cause
Beta Thalassaemias
35
4 types of alpha thalassaemia
Alpha thalassaemia major Hb H disease Alpha thalassaemia minor Alpha thalassaemia minima
36
What genetic abnormality causes alpha thalassaemia major
Deletion of 4 alpha globin genes
37
Why is alpha thalassaemia major incompatible w life
No alpha globin synthesised so Hb contains Portland and non functional gamma tetramers (Hb Bart’s)
38
What is caused by deletion of 3 alpha genes
Hb H disease
39
What is haemoglobin H
Tetramer of beta globin formed in Hb H disease from excess beta globin
40
Which types of alpha thalassaemia cause Microcytic Hypochromic anaemia
Hb H disease Alpha thalassaemia minor
41
What condition is caused by 2 missing alpha genes
Alpha thalassaemia minor
42
Which type of alpha thalassaemia creates normal Hb production and no symptoms
Alpha thalassaemia minima
43
What types of alpha Thalassaemias are carriers
Alpha thalassaemia minor Alpha thalassaemia minima - silent carrier
44
Does beta thalassaemia have quantitative or qualitative effects on beta globin
Quantative
45
What happens to excess alpha globin subunits in beta thalassaemia
Forms insoluble aggregates
46
What are the 3 types of beta thalassaemia
Beta thalassaemia minor / trait Beta thalassaemia intermediate Beta thalassaemia major
47
How does beta thalassaemia cause anaemia
Ineffective erythropoiesis and haemolysis due to excess alpha chain precipitates
48
Where do excess alpha chains precipitate in beta thalassaemia
RBCs RBC precursors
49
Effects of beta thalasssaemia
Ineffective erythropoiesis Haemolysis Bone marrow expansion Increase GI iron absorption
50
How does thalassaemia effect MCV
Decrease
51
How does thalassaemia effect serum iron, serum ferritin, tibc, and bone marrow iron
No effect
52
Are RBCs macro micro or Normocytic in Thalassaemia
Microcytic
53
Thalassaemia treatment
Regular blood transfusions Iron chelation therapy Splenectomy Allergenic bone marrow transplant
54
Which amino acids are switched in haemoglobin s
Hydrophilic glutamic acid replaced by hydrophobic valine
55
Which codon is GAG replaced by in haemoglobin s
GTG
56
How is sickle cell anaemia inherited
Autosomal recessive
57
Why does Hb S polymerise
Hydrophobic section created by substituted valine sticks to hydrophobic region on adjacent Hb
58
Does sickle cell anaemia effect beta or alpha globin
Beta
59
Which position on beta globin does the substitution occur in HbS
6
60
What causes RBC membrane damage in sickle cell anaemia
Repeated sickling and unsickling between normal shaped oxy state and sickled deoxy state
61
Vasoocclusive crises
Sickle cells obstruct capillaries and restrict blood flow to an organ causing ischaemia, pain, and organ damage
62
What causes haemolytic anaemia, and jaundice in sickle cell anaemia
Destruction of sickled RBCs
63
Consequences of sickle cell disease
Haemolytic anaemia Increased infection susceptibility Vaso occlusive crises Chronic tissue damage
64
Sickle cell disease management
Antibiotic prophylaxis Analgesics for vasoocclusive crises Blood transfusions Hydroxyurea Bone marrow transplants
65
Why are antibiotics used prophylactically in SCD
Infection increases O2 demand, increasing vasooclusive crises
66
How does hydroxyurea help SCD
Increases HbF Reduces crises

CR2 (33 decks)

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