Should we screen for globin gene mutations in blood samples with mean corpuscular volume (MCV) greater than 80 fL in areas with a high prevalence of thalassaemia?

L C Chan¹, S K Ma¹, A Y Y Chan¹, S Y Ha², J S Waye³, Y L Lau² and D H K Chui³

¹ Department of Pathology, The University of Hong Kong and Queen Mary Hospital, Hong Kong, The People's Republic of China
² Department of Paediatrics, The University of Hong Kong and Queen Mary Hospital
³ Provincial Haemoglobinopathy DNA Diagnostic Laboratory and Department of Pathology and Molecular Medicine, McMaster University of Faculty of Health Sciences, Hamilton, L8N 3Z5 Ontario, Canada

Correspondence to:
Professor Chan chanlc{at}pathology.hku.hk

Aims—To investigate whether it is worthwhile, in areas where thalassaemia is common, to screen for globin gene mutations in subjects with a mean corpuscular volume (MCV) above 80 fL, especially in partners of known thalassaemia carriers.

Methods—Blood samples from 95 subjects with MCV between 80 and 85 fL were screened for the presence of globin gene mutations and the haemoglobin (Hb) E mutation.

Results—Thirty four subjects harboured globin gene mutations. Of these, 31 had deletions of one globin gene, one had Hb Constant Spring, and three had Hb E mutations.

Conclusion—Based on the above figures and known prevalence rates of thalassaemia carriers, it would seem worthwhile to screen for globin gene mutations in partners of known thalassaemia carriers, regardless of MCV, to identify pregnancies at risk of Hb H disease or Hb E/ß thalassaemia.

Key Words: thalassaemia • globin gene mutation • mean corpuscular volume • screening • genetic counselling

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