Silent mutations of thalassaemia - a diagnostic dilemma

ABSTRACT

A case of thalassaemia intermedia resulting from compound heterozygosity between Fr8-9 and Cap+1 mutation is presented. Patient's father had undergone premarital thalassaemia screening and was declared free of thalassaemia due to normal HbA[2] levels. We aim to discuss the clinico-haemtological features and diagnostic approach for Cap+1 mutation in carrier as well as compound heterozygous state with a beta[0] mutation