HEMOGLOBIN-D IBADAN-BETA(O) THALASSEMIA - DETECTION BY NEONATAL SCREENING AND CONFIRMATION BY ELECTROSPRAY-IONIZATION MASS-SPECTROMETRY

We describe an infant with hemoglobin D lbadan-beta-degrees thalassemi a whose hemoglobinopathy was initially detected by neonatal screening. This previously undescribed condition was confirmed by family studies and by globin chain analysis by mass spectrometric techniques. The ca se illustrates the importance to neonatal screening programs of confir matory testing and of linkage with reference laboratories capable of g lobin chain analysis. Hematologic studies at 36 months of age suggeste d that the presence of hemoglobin D lbadan had no deleterious effect o n this child with heterozygous beta-degrees thalassemia. (C) 1993 Wile y-Liss Inc.