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Haematology > Thalassaemia > Flashcards

Thalassaemia Flashcards

1
Q

What does normal haemoglobin consist of?

A

Two alpha-globin chains and two beta-globin chains

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2
Q

What is alpha thalassaemia?

A

Defects in alpha-globin chains

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3
Q

What is beta thalassaemia?

A

Defects in beta-globin chains

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4
Q

What type of anaemia does thalassaemia lead to?

A

Microcytic anaemia

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5
Q

What is the mode of inheritance of thalassaemia?

A

Autosomal recessive

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6
Q

What is HbA?

A

Normal haemoglobin
- Two alpha chains and two beta chains

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7
Q

What is HbA2?

A

Two alpha chains and two delta chains

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8
Q

What is HbF?

A

Fetal haemoglobin
- Two alpha chains and two gamma chains

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9
Q

What genes are responsible for alpha chain synthesis?

A

4 alleles on chromosome 16

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10
Q

What genes are responsible for beta chain synthesis?

A

2 alleles on chromosome 11

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11
Q

What three types of beta thalassaemia exist?

A

Thalassaemia minor
Thalassaemia intermedia
Thalassaemia major

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12
Q

What is thalassaemia minor?

A

Patients have one abnormal and one normal gene
This causes mild microcytic anaemia

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13
Q

What is thalassaemia intermedia?

A

Patients have two abnormal copies of the beta-globin gene:
- Two defective genes or one defective and one deletion

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14
Q

What is the presentation of thalassaemia intermedia?

A

More significant microcytic anaemia that may need occasional blood transfusions

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15
Q

What is thalassaemia major?

A

Patients are homozygous for the deletion genes
- They have no functioning beta globin genes

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16
Q

Why do bone changes occur in thalassaemia major?

A

The bone marrow is under strain to produce extra red blood cells to compensate for chronic anaemia
- This causes the bone to expand

17
Q

What bone changes may occur in thalassaemia major?

A

Frontal bossing - prominent forehead
Enlarged maxilla - prominent cheekbones
Depressed nasal bridge
Protuding upper teeth

18
Q

What are the first line investigations for thalassaemia?

A

FBC - microcytic anaemia
Blood film - microcytic hypochromic erythrocytes, as well as target cells

19
Q

What is the diagnostic test for thalassaemia?

A

Hb electrophoresis

20
Q

What is the management of thalassaemia major?

A

Regular blood transfusions
Iron chelation (to prevent iron overload due to transfusions)
Folate supplementation
Stem cell transplant

Haematology (11 decks)

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