A brief review on newborn screening methods for hemoglobinopathies and preliminary results selecting beta thalassemia carriers at birth by quantitative estimation of the HbA fraction.

ABSTRACT

OBJECTIVES: We present in a brief summary the basic aspects of the most rational technologies used for new born screening (NBS) of the hemoglobinopathies and we report the preliminary results for the identification of beta-thalassemia carriers at birth by measuring the expression of the HbA fraction. DESIGN AND METHODS: Separation and measurement of the Hb fractions in 1.500 cord blood samples collected among the multi-ethnic Dutch population using different methods. RESULTS: By using a cut of <15% HbA we have found 4 carriers of point mutations defects 3 of which among a group of 34 newborns of ethnic origin and one among 120 north Europeans. DISCUSSION: All methods for NBS summarized in this paper provide identification at practically 100% sensitivity and high specificity. However, all methods should be followed by routine parent's analysis to confirm the provisional results. Taking into consideration the gestation age and the HbA expression, we believe that carriers of beta-thalassemia can be preselected at birth with a reasonable degree of sensitivity and be confirmed by parent analysis.