Clinical Features of Beta Thalassaemia

Beta Thalassaemia
Thalassaemia Minor (heterozygous carrier state)
- Asymptomatic (no symptoms)
- Can experience mild weakness or fatigue.
- Anaemia is mild or absent.

Thalassaemia Intermedia.
- Moderate anaemia (Hb 7 - 10g/dL)
- Doesn't usually require transfusions
- May have:

• Splenomegaly
• Bone deformities
• Recurrent leg ulcers
• Infections

Thalassaemia Major (Cooley's Anaemia)
- For more children in their first year of life:

• Failure to thrive and recurrent bacterial infections.
• Irritability.
• Difficulty feeding
• Progressive paleness

- As development continues, severe anaemia can onset from 3 - 6 months.
- Extrameduallry haemopoiesis (outside of medulle, formation of blood cellular components) can occur. Leads to hepatosplenomegaly and bone expansion.
- Skull has a "hair on end" appearance as a result of bone expansion.
- Skeletal deformities
- Increased iron, iron absoprtion and iron from transfusion can lead to systemic iron overload.

Alpha Thalassaemia
- Dependant on 4 genetic loci for alpha globin. Severity of disease depends on how many loci are mutated:
- 4 Loci:

• Foetus cannot live outside uterus.
• May not survive gestation.
• Hydrops fetalis (edema in subcutaneous tissue) may occur. May lead to spontaneous abortion.

- 3 Loci:

• Moderate anaemia (Hb 7 - 10g/dL)
• Splenomegaly
• Not usually transufion dependant.

- 2 Loci:

• Microcytosis of cells.
• Can occur with or without anaemia.

- 1 Loci:

• Blood picture is normal