Thalassaemia Flashcards
What is the aetiology and pathology of thalassaemia?
Reduced or absent globin chains due to mutation/deletion
What is the inheritance of thalassaemia?
Autosomal dominant
What type of thalassaemia is incompatible with life?
Homozygous alpha thalassaemia
What is a sign of alpha thalassaemia?
Hydrops fetalis
What is hydrops fetalis?
Swollen liver and abdomen of the new born
What are the 3 types of beta thalassaemia?
Major
Intermedia
Minor (thalassaemia trait)
What is beta thalassaemia major?
Transfusion dependent thalassaemia
Homozygous beta thalassaemia
NO BETA CHAINS PRODUCED
What is beta thalassaemia intermedia?
Non-transfusion dependent thalassaemia
What physiological condition may increase the effects of beta thalassaemia trait?
Pregnancy
Typical presentation?
” 8 month old boy of meditteranian origin presents with progressive abdominal swelling and hepatosplenomegaly. O/e he is pale, jaundiced and has parietal bossing. “
How is beta thalassaemia diagnosed?
Picked up at birth –> complete lack of HbA
How does beta thalassaemia present if not diagnosed at birth?
- Large head
- > parietal bossing
- Chipmunk facies
- Jaundice and severe anaemia (extrinsic haemolysis)
- Abdo swelling
- Bony lesions from bone marrow expansion
Why does extrinsic haemolysis occur in beta thalassaemia?
Spleen and reticuloendothelial system detect abnormal RBCs and destroy them –> hepatosplenomegaly
What investigations can be done for beta thalassaemia?
FBC
Blood smear
Reticulocyte count
What is shown on blood smear?
Tear drop cells
