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?

Aims-To investigate whether it is worthwhile, in areas where thalassaemia i s common, to screen for globin gene mutations in subjects with a mean corpu scular volume (MCV) above 80 fL, especially in partners of known thalassaem ia carriers. Methods-Blood samples from 95 subjects with MCV between 80 and 85 fL were s creened for the presence of alpha globin gene mutations and the haemoglobin (Hb) E mutation. Results-Thirty four subjects harboured globin gene mutations. Of these, 31 had deletions of one a globin gene, one had Hb Constant Spring, and three h ad Hb E mutations. Conclusion-Based on the above figures and known prevalence rates of thalass aemia carriers, it would seem worthwhile to screen for globin gene mutation s in partners of known thalassaemia carriers, regardless of MCV, to identif y pregnancies at risk of Hb H disease or Hb E/beta thalassaemia.