Thalassaemia intermedia

Thalassaemia intermedia refers to individuals who are either:

• homozygous mild beta+ thalassaemia (1)
• homozygous delta beta -thalassaemia - i.e. have combinations of beta+ and delta beta thalassaemic genes in which there is decreased delta and beta globin production but raised production of gamma chains
• homozygous beta-thalassaemia but with hereditary persistence of foetal haemoglobin (1)- i.e. with high production of HbF
• combination of beta thalassaemia with alpha thalassaemia (1)- clinically, resembles Hb H disease

These factors can reduce the affect and damage of free α chains within the developing erythroblast (1).

In this condition the production of β globins are reduced but are sufficiently available to allow growth and development without regular transfusions. Although transfusions maybe needed later to prevent later complication (1).

Symptoms may vary from none - thalassaemia minor - to anaemia, hepatosplenomegaly and bone deformities - thalassaemia major. There may also be recurrent leg ulceration, infections and gallstones.

Reference:

• (1) Standards for the Clinical Care of Children and Adults with Thalassaemia in the UK, United Kingdom Thalassaemia Society 2008