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The Celtic Curse - Haemochromatosis

This SangerArtwork called “The Celtic Curse” was created to coincide with World Haemochromatosis Week 2019.

The artwork features a Celtic knot design made out of the entire HFE gene sequence. Conveniently the human HFE gene sequence is just under 8000 base pairs long (7961 bp to be precise), my current upper limit for these artworks. The image includes the single base change, also known as the C282Y or Cys282Tyr mutation, that causes the most common form of hereditary haemochromatosis. It is positioned inside a blood spatter - representing the disease, which is treated by the removal of blood and is often referred to as the “Celtic Curse” for reasons explained below.

People with 2 copies of the C282Y mutation (also known as homozygous) have no functional HFE protein. This means they cannot regulate their body iron levels and continue to absorb iron unchecked. This leads to iron overload in many of the bodies organ systems, leading to the symptoms of haemochromatosis, which include fatigue, weakness, joint pain, arthritis, liver disease and diabetes.

HFE Celtic curse_2000px.jpg

The change is from base G (guanine) to A (adenine). This occurs at the 845th base of the protein coding sequence in codon number 282. It causes amino acid number 282 of the HFE protein to be changed from C (cysteine) to Y (tyrosine) - hence C282Y. The official name for this mutation is c.845G>A, p.C282Y.

The C282Y mutation is very common in northern European populations and in particular the Celtic countries where the mutation is thought to have arisen a few thousand years ago. Hence haemochromatosis is common among people with Celtic ancestry giving it the nickname "Celtic Curse". Ireland has the highest incidence with a staggering 1 in 83 people being homozygous for this mutation (see here for publication). Amazingly, the C282Y mutation was detected in ancient DNA from a Bronze Age burial on the island of Rathlin, just off the coast of Northern Ireland. This indicates that the mutation is at least 3000 years old and was present in the same area where it is most common today (see here for publication).

To find out more about about this common genetic condition please visit Haemochromatosis Australia

The artwork is made up of >8000 bases of Sanger DNA sequence chromatogram with the image of a Celtic knot embedded into it and the homozygous p.C282Y mutation positioned in the middle of a blood spatter. There are 27 rows of sequence at 300 bases across, designed to be printed at a size of around 22x22 in or 55x55 cm.

This artwork is designed to be viewed both closeup - to reveal the DNA sequence, and far away - to reveal the image. The closeup that you can see below reveals some important details. The origin of the sequence (bases 1 to 8000) is shown in the bottom right corner - human genome version GRCh38/hg38, chromosome 6, from bases 26087274 to 26095273. The HFE gene, including all 6 exons and 5 introns, is located between bases 8 and 7968 of the image with the all important p.C282Y mutation (also known by its SNP ID of rs1800562) at position 5640. As with most of my SangerArtworks I have used the bases after 8000 to sign and date the design with a hidden “Sangerism”.

You can purchase this artwork in a number of different formats from Society6 or Redbubble using the links below.



HFE Celtic Curse_annotations_2000px.jpg
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