Related Experiment Video
Updated: Aug 9, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Clinical expression of co-inherited Dubin-Johnson and thalassaemic heterozygous states
A Fretzayas1, S Kitsiou, A Papadopoulou
1The 3rd Department of Pediatrics, Attikon University Hospital, University of Athens, School of Medicine, 1 Rimini Str., Haidari 124 62, Athens, Greece. afretz@med.uoa.gr
Abstract:
Dubin-Johnson syndrome is a worldwide prevalent familial conjugated hyperbilirubinaemia. The identification of multidrug resistance-associated protein 2 provided an understanding of the complex metabolic impairment involved in this syndrome. We report the first family with modified clinical expression of Dubin-Johnson heterozygous state due to genotypic interaction with co-inherited beta and deltabeta thalassaemia, an interaction that has never been described.
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
Genetic Lingo
Multiple Allele Traits
Disorders of Erythrocytes
Erythrocyte disorders can be broadly categorized into two main types: anemic and polycythemic conditions.
A low oxygen-carrying capacity of the blood due to the loss, lower production, or destruction of erythrocytes is termed anemia. Hemorrhagic anemia, for example, occurs when bleeding from an external wound or internal ulcer reduces erythrocyte counts.
On the other...
Jaundice
