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

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Abstract

Aim

To compare the haemoglobin (Hb) H inclusion test with a polymerase chain reaction (PCR) test in routine screening for alpha thalassaemia.

Methods

Ninety nine peripheral blood samples from Chinese patients with mean corpuscular volume below 80 fl were screened for alpha 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 alpha thalassaemia.

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