clinical features (Thalassaemia intermedia)

Last reviewed 01/2018

• Mild Disease
  • usually do not require transfusions
  • late complications can occur including pulmonary hypertension, hypersplenism, gall bladder disease, and chronic ankle ulceration. (1)
    
    
• Moderate to severe Disease
  • severe anaemia, reduced exercise tolerance, mild to moderate bone changes, hypersplenism, poor growth during childhood, and a delay in pubertal development. (1)
  • they are likely to develop gall stones and have extramedullary haematopoietic masses. (1)
  • bone marrow expansion may cause malformation of facial bones, difficulty hearing or chewing and increased sinus infections (1). Pain and pathological fractures of long bones can also occur. (1)
  • liver iron deposition may occur due to increased iron absorption in the gut but easier to achieve negative iron balances than in thalassaemia major. (1)
  • pulmonary hypertension is an important complication and regular echo studies are needed to detect early. (1)
  • may require transfusions (1)
    

Reference:

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