Detection of alpha thalassaemia in Negro infants.
A prospective study of 2191 Negro infants in Jamaica showed that approximately 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 DNA from these infants were used to determine the significance of Hb Bart's at birth. The results indicate that the genotypes alpha alpha/alpha alpha, -- alpha/alpha alpha and -- alpha/ -- alpha are associated with 0%, 0.1-2%, and greater than 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 haemoglobin analysis in the neonatal period cannot be used to diagnose this genotype with any certainty.
D044383:Black People; D004247:DNA; D004909:Erythrocyte Indices; D005838:Genotype; D005914:Globins / Q000096:biosynthesis; D006455:Hemoglobins, Abnormal / Q000032:analysis; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007563:Jamaica; D011446:Prospective Studies; D013789:Thalassemia / Q000097:blood / Q000175:diagnosis* / Q000235:genetics
D006455:Hemoglobins, Abnormal; D005914:Globins; D004247:DNA