The aim of this project was to study biomarkers in blood which can be connected to the development or diagnosis of haemochromatosis.
Haemochromatosis is a hereditary condition and is most prevalent among Northern Europeans. Approximately 12 to 15 % of the population is estimated to be carriers of a gene called HFE, corresponding to about 600 000 Norwegians. If both copies of the HFE gene are mutated, there is an elevated risk of developing of the condition, which is believed to be highly underdiagnosed.
The disease often results in an excessive iron-uptake from the small intestine which causes accumulation in several organs. The symptoms are highly variable, but chronic fatigue and joint pain are common. Iron deposits in the liver is often observed, and liver diseases (liver fibrosis or cirrhosis) can be developed. Some also develops diabetes, impotence and heart ailments (cardiomyopathy). Many struggle with symptoms without knowing the cause of their ailments as the symptoms can easily be confused with other conditions. The treatment of this condition is simply regular venesection (bloodletting). Patients can therefore easily be treated, provided they are correctly diagnosed.
Few studies have focused on the indentification of correlating factors for haemochromatosis, which is our main aim in this project. Such knowledge is likely to increase the probability of obtaining a correct diagnose at an early stage and understand this disease better.
This is a collaberation with Østfold Hospital Trust (http://www.sykehuset-ostfold.no) and the scientific leader of the project is professor Christine Jonassen at the Østfold Hospital Trust.This project is carried out in cooperation with Akershus University Hospital and is partly financed by Oslofjordfondet (project number 239139).