What is the common presentation of Beta-thalassaemia major?

presents in the first year of life with failure to thrive and hepatosplenomegaly

What are the main clinical features of Beta-thalassaemia major?

• presents in the first year of life with failure to thrive and hepatosplenomegaly
• microcytic anaemia
• HbA2 & HbF raised
• HbA absent

What is the management of Beta-thalassaemia major?

repeated transfusion

• this leads to iron overload → organ failure
• iron chelation therapy is therefore important (e.g. desferrioxamine)

What are the symptoms of Beta-thalassaemia trait?

mild hypochromic, microcytic anaemia. It is usually asymptomatic

What is seen in bloods in Beta-thalassaemia trait?

• mild hypochromic, microcytic anaemia - microcytosis is characteristically disproportionate to the anaemia
• HbA2 raised (> 3.5%)