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Updated: Aug 15, 2026

Removal of an Internal Translational Start Site from mRNA While Retaining Expression of the Full-Length Protein
Published on: March 16, 2022
A 4 base pair TGAT insertion at codon 116 of the beta globin gene causes beta0-thalassemia
Hannes Frischknecht1, Roland Kiewitz, Markus Schmugge
1Institute for Medical & Molecular Diagnostics Rautistr. 13, CH-8047 Zürich, Switzerland. hannes@imdlab.ch
Abstract:
A new beta(0) thalassemia allele caused by a TGAT insert in codon 116 of exon III was detected in a patient compound heterozygous for beta(0) thalassemia / Hb D Los Angeles and his father. The mutation unexpectedly causes a classical thalassemic phenotype. The compound heterozygosity leads to mild microcytic anemia and no further clinical signs.
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Related Concept Videos
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
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
Multiple Allele Traits
Genome Copying Errors
From DNA to Protein
Mutations