NF Olivieri, LS Chang, AO Poon, AM Michelson, SH Orkin; An alpha-globin gene initiation codon mutation in a black family with HbH disease. Blood 1987; 70 (3): 729–732. doi: https://doi.org/10.1182/blood.V70.3.729.729
The molecular basis of hemoglobin H disease in a Black family of Canadian origin was investigated. Affected individuals had a combination of deletion and nondeletion alpha-thalassemia mutations on different chromosomes. Cloning and sequencing of the DNA of one member with the nondeletion form revealed a new thalassemia mutation, an A---- G substitution, in the initiation codon of the remaining alpha-globin gene of a rightward (-alpha 3.7) deletion chromosome. This mutation abolished an Ncol restriction site and therefore is detectable in genomic DNA by Southern blot analysis.