Abstract
In α thalassemia, molecular analysis has revealed deletion and non-deletion defects, of which deletion mutations are the most common. To date the non-deletion defects described have involved the α2 globin gene. Analysis of the molecular basis of HbH disease in a black family revealed the non-functional gene to be entirely α1 like, with a single nucleotide change in the initiation codon (A←G). This represents the first assignment of a non-deletion mutation in this racial group and the first mutation identified in the α1 globin gene. Since this mutation, which abolishes the NCOI site in the initiation codon, is detectable in genomic DNA by NCOI digestion, Southern blot analysis should provide a rapid screening method for the occurrence of this lesion in blacks with αthalassemia.
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Olivieri, N., Poon, A., Chang, L. et al. AN INITIATION CODON MUTATION IN THE α1 GLOBIN GENE OF A BLACK FAMILY WITH HbH DISEASE. Pediatr Res 21 (Suppl 4), 303 (1987). https://doi.org/10.1203/00006450-198704010-00815
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DOI: https://doi.org/10.1203/00006450-198704010-00815