Beta Thalassaemia Intermedia post Transfusion

This patient presents with a relatively normal FBC showing only a mild anaemia, however the RDW is raised. The blood film shows a rather more complicated story, highlighting the importance of this investigation. 

The red cell population is dimorphic, with a population of hypochromic, microcytic cells showing abnormal haemoglobinisation, frequent target cells and basophillic stippling. There is significant red anisopoikilocytosis.  There are nucleated RBC and these are abnormal. The second population contains a mix of normal red cells with central pallor and spherocytes indicating that transfusion should be considered.

The white cell series is relatively normal, with a mature lymphocyte confirming the cells are predominantly microcytic. There are some platelet clumps but the number appears normal.

The native population is suggestive of beta thalassaemia. Alpha thalassaemia produced a microcytic, hypochromic appearance but unless this is a 3 chain deletion (there are 4 alpha genes - loss of three of them is HbH disease) then anaemia is uncommon and need for transfusion unusual. In HbH disease the red cell morphology is varied but basophillic stippling and abnormal haemoglobinisation is rare.

The clinical history will determine if this is thalassaemia minor, intermedia or major - in this case the patient needs intermediate transfusion support so he would be badged as Thalassaemia Intermedia.