Comparison of the HbH inclusion test and a PCR test in routine screening for α thalassaemia in Hong Kong

Abstract

Aim - To compare the haemoglobin (Hb) H inclusion test with a polymerase chain reaction CPCR) test in routine screening for or thalassaemia. Methods - Ninety nine peripheral blood samples from Chinese patients with mean corpuscular volume below 80fl were screened for a thalassaemia using the HbH inclusion test and by PCR utilising primers bridging the common deletion breakpoint of the South East Asian (--SEA/) deletion. Results - The HbH inclusion test was positive in 78 (79%) patients, 73 (93.7%) of whom carried the (--SEA/) deletion on analysis of their DNA by PCR, as did one patient with a negative HbH inclusion test. Conclusions - These results suggest that in areas with a high prevalence of the (--SEA/) deletion, such as Hong Kong, the HbH inclusion test can be replaced by PCR as the investigation of choice in screening for a thalassaemia.