An alpha-globin gene initiation codon mutation in a black family with HbH
disease
NF Olivieri, LS Chang, AO Poon, AM Michelson and SH Orkin
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.
Volume 70,
Issue 3,
pp. 729-732,
09/01/1987
Copyright © 1987 by The American Society of Hematology
