Thalassaemia Major

Alternate Name:

Test:

RBC (microcytic, hypochromic), specific PCR (+),Hb (VL), HbH (+ in HbH thalassaemia), B.reticulo-cytes (H), B.target cells (+), tissue DNA probe (+),WCC (N or H), HbF (+), marrow biopsy (hyper-plastic), S.bilirubin (H)

Sign:

Splenomegaiy, hepatomegaly, south east Asian or Mediterranean origin

Dd:

Other haemoglobinopathies, haemolytic anaemia

Phys:

Congenital inability to produce adequate haemo­globin. Thalassaemia minor is the heterozygous form