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Updated: Jun 21, 2026

Removal of an Internal Translational Start Site from mRNA While Retaining Expression of the Full-Length Protein
Published on: March 16, 2022
First identification of a point mutation at position -83 (G>A) of the beta-globin gene promoter
Estelle Cadet1, Karine Foulon, Jean-François Claisse
1INSERM UMR-925,Universite de Picardie Jules Verne, Amiens, France.
Abstract:
We report the first identification of a point mutation located within the promoter region of the beta-globin gene at position -83 (G>A) and associated with the common heterozygous deletional alpha-thalassemia (alpha-thal) (-alpha(3.7)/alphaalpha). The patient was an adult male from Gabon belonging to the Obamba sub ethnic group, who was referred to our clinics for a mild microcytic anemia with a Hb A(2) level at the upper limit of the normal value (3.5%). This observation is a new example of alpha- and beta-thal co-inheritance with a normal Hb A(2) level, and illustrates a potential source of pitfall in screening for alpha- and beta-thal carriers.
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Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life

