Evaluation of a prenatal screening procedure for β-thalassaemia carriers in a chinese populationbased on the mean corpuscular volume (MCV)

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Abstract
Haemoglobin A2 (HbA2) levels were determined on 25 β-thalassaemia carriers by the microcolumn method and were found to range from 4.5–7.2 per cent (mean 5.2±0.82 S.D.). The haemoglobin level (Hb), mean corpuscular volume (MCV), plasma ferritin and HbA2 levels were measured on a further 299 cconsecutive Chinese pregnant women at a gestation of less than 24 weeks. 18 patients (6 per cent) had HbA2 level greater than 4.5 per cent and were diagnosed to be β-thalassaemic carriers. It was observed that all these patients had a MCV below 75 fl. If this level is selected in a screening procedure based on measurement of MCV alone all β-thalassaemia carriers could be detected and 11 per cent of the population screened would require HbA2 estimation. At a lower cut-off level of 70 fl, 8 per cent of the population screened wouid require HbA2 measurement (a decrease of 27 per cent) but the detection rate will be lowered considerably (83 per cent). The high false positive rate at all cut-off levels of MCV was largely due to the prevalence of iron deficiency anaemia in the population. Estimation of plasma ferritin level in patients with low MCV will reduce this false positive rate, but there will be a considerable delay in diagnosis in patients with concomitant iron deficiency and β-thalassaemia. The presence of iron deficiency in β-thalassaemia carriers did not reduce their HbA2 level below the diagnostic range in this study. Measurement of Hb level did not appear to be useful as a screening method since one third of the β-thalassaemia carriers had a Hb level over 11 g/dl. The validity of the MCV cut-off levels derived from the first part of the study was assessed in screening a larger population. 61 β-thalassaemia carriers (6 per cent) were detected out of 1166 patients screened. This incidence was not significantly different from the first part of the study. All these 61 patients had a MCV less than 75 ml. It was concluded that a two-step screening policy, based on MCV measurement followed by HbA2 estimation when the MCV value is less than 75 fl, is suitable for our population. It is efficient, straight forward with excellent sensitivity and required less time and effort for both laboratory staff and clinicians.