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Haematology > Thalassaemia > Flashcards

Thalassaemia Flashcards

1
Q

Define Thalassemia?

A

A group of genetic disorders characterised by reduced globin chain synthesis

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2
Q

What is the aetiology of Thalassemia?

A

Autosomal recessive

Results in an imbalance of globin chain production and deposition in erythoblasts and erythocytes

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3
Q

What does Thalassemia lead to?

A

Ineffective erythropoiesis
Haemolysis
Anaemia
Extramedullary haematopoiesis

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4
Q

What are the two main types of Thalassemia?

A

Alpha Thalassemia

Beta Thalassemia

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5
Q

What happens in Alpha Thalassemia?

A

Reduction in alpha-globin chain synthesis

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6
Q

How many alpha-globin genes are there on the chromosome?

A

Four

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7
Q

What happens when there is 4 gene deletion in Alpha Thalassemia?

A

Haemoglobin Barts Hydrops Fetalis (intrauterine death)

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8
Q

What happens when there is 3 gene deletion in Alpha Thalassemia?

A

Haemoglobin H leads to microcytic hypochromic anaemia and splenomegaly

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9
Q

What happens when there is 3 gene deletion in Alpha Thalassemia?

A

Haemoglobin H leads to microcytic hypochromic anaemia and splenomegaly

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10
Q

What happens when there is 2 gene deletion in Alpha Thalassemia?

A

Alpha 0 Thalassemia leads to microcytic hypochromic red cells, NO ANAEMIA

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11
Q

What happens when there is 1 gene deletion for Alpha Thalassemia?

A

Alpha + Thalassemia leads to microcytic hypochromic red cells, NO ANAEMIA

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12
Q

What are the three main types of Beta Thalassemia?

A

Beta Thalassemia Major
Beta Thalassemia Intermedia
Beta Thalassemia Trait

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13
Q

What is Beta Thalassemia Major?

A

Homozygous Beta Thalassemia leads to little or no beta-chain synthesis

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14
Q

What is Beta Thalassemia Intermedia?

A

Mild defect in beta-chain synthesis leads to:
Microcytic Anaemia
Reduced alpha-chain synthesis
Increased gamma-chain synthesis

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15
Q

What happens in the Beta Thalassemia Trait?

A

Heterozygous carrier state
ASYMPTOMATIC
Mild microcytic anaemia
Increased Red Cell Count

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16
Q

What is the epidemiology of Thalassemia?

A

WORLDWIDE

More common in the Mediterranean and areas of the Middle-East

17
Q

What are the presenting symptoms of Beta Thalassemia Major?

A 
Anaemia 
Presenting at 3-6 months:
- This is when the change from HbF to HbA takes place 
- Failure to thrive
- Prone to infection
18
Q

What are the presenting symptoms of Alpha or Beta Thalassemia Trait?

A

May be ASYMPTOMATIC

Detected during routine blood test or due to family history

19
Q

What are the signs of Beta Thalassemia Major?

A 
Pallor 
Malaise 
Dyspnoea 
Mild Jaundice 
Frontal Bossing 
Thalassaemia facies
Hepatosplenomegaly
Patients with beta-thalassemia intermedia may also have these signs
20
Q

What is Thalassaemia Facies?

A

Facial features caused by marrow hyperplasia

21
Q

What is Hepatosplenomegaly due to?

A

Erythocyte pooling and extramedullary haematopoiesis

22
Q

What investigations do you do for Thalassemia?

A 
Bloods 
Blood Film
Hb Electrophoresis 
Bone Marrow 
Genetic Testing (rarely used)
Skull X-Ray
23
Q

What bloods do we do for Thalassemia and what do we see?

A

FBC:

  • Low Hb
  • Low MCV (microcytic anaemia)
  • Low MCH
24
Q

What do we see on a Blood Film for Thalassemia?

A

Hypochromic microcytic anaemia
Target cells
Nucleated red cells
High reticulocyte count

25
Q

What do you see on a Hb Electrophoresis for Thalassemia?

A

Absent or reduced HbA

High HbF

26
Q

What do you see on a Hb Electrophoresis for Thalassemia?

A

Absent or reduced HbA

High HbF

27
Q

What do you see on Bone Marrow for Thalassemia?

A

Hypercellular

Erythroid Hyperplasia

28
Q

What do you see on Skull X-Ray for Thalassemia?

A

‘Hair on end’ appearane in beta Thalassemia major

This is caused by expansion of marrow into the cortex

Haematology (24 decks)

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