Diagnosis of thalassaemia by non‐isotope detection of α/β and ζ/α mRNA ratios

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Abstract
Summary. The α/β and ζ/α messenger RNA (mRNA) ratios in the thalassaemia syndromes were investigated by polymerase chain reaction (PCR) with silver staining of the PCR products. In this study we used the PCR to amplify cDNA copies of circulating erythroid cell mRNA in order to measure the relative amounts of α‐, β‐ and ζ‐globin contained within. Quantitation was performed by scanning the silver stain of specific globin cDNA bands. We found that there were significant differences of α/β‐mRNA and ζ/α‐mRNA in patients with Hb H disease and α‐thalassaemia‐1 compared to normal subjects. There was a marked increase in the α/β‐mRNA ratio but not in the ζ/α‐mRNA ratio in patients with β‐thalassaemia. In two β‐thalassaemia cases abnormal increases of ζ‐globin bands were noted and they were confirmed through DNA analysis to be combined with α‐thalassaemia‐1. This method provides a simple, rapid and non‐radioactive approach to detect thalassaemia syndromes, and can help to screen cases of β‐thalassaemia with α‐thalassaemia‐1.