Detection of alpha thalassaemia in Negro infants

ABSTRACT

A prospective study of 2191 Negro infants in Jamaica showed that approximately 7 percent of them had detectable levels of Hb Bart's (Y4) in the neonatal period. The red cell indices, globin chain biosynthesis and restriction endonuclease mapping of DNA from these infants were used to determine the significance of Hb Bart's at birth. The results indicate that the genotypes OO/OO, - O/OO and - O/-O are associated with 0 percent, 0.1-2 percent, and greater than 2 percent Hb Bart's respectively. Although trace amounts of Hb Bart's may be associated with the genotype - O/OO this is not always the case and therefore haemoglobin analysis in the neonatal period cannot be used to diagnose this genotype with any certainty (AU)