A review of the molecular diagnosis of thalassemia

The thalassaemias are a major health problem, and approximately 1 in 14 of the population are carriers for one of the sub types. For the purpose of prevention and control of clinically severe disease, molecular diagnosis either pre-natally or ante natal with genetic counselling are increasingly important. The majority of mutations causing the thalassaemias have now been characterised and a small number of common mutations cause the bulk of disease in each particular population-base. With little more than 6 to 8 common mutations probes over 90% of thalassaemic patients can now be characterised but challenges remain in the 10% where the mutations are rare, or have not yet been determined. Newer developments in micro array technology in combination with current PCR based systems will lead to further characterisation of this group and aid proper genetic potential identification and control of the disorder.