Detection of Alpha Thalassaemia in Negro Infants

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Abstract
A prospective study of 2191 Negro infants in Jamaica showed that .apprx. 7% of them had detectable levels of Hb Bart''s (.gamma.4) in the neonatal period. The red cell indices, globin chain biosynthesis and restriction endonuclease mapping of DAN from these infants were used to determine the significance of Hb Bart''s at birth. The genotypes .alpha..alpha./.alpha..alpha., -.alpha./.alpha..alpha. and -.alpha./-.alpha. are associated with 0%, 0.1-2%, and > 2% Hb Bart''s, respectively. Although trace amounts of Hb Bart''s may be associated with the genotype -.alpha./.alpha..alpha., this is not always the case and therefore Hb analysis in the neonatal period cannot be used to diagnose this genotype with any certainty.