Researchers identify gene that causes severe anaemia

SYDNEY - Researchers have identified a gene variant linked to a severe form of anaemia which may improve our understanding of iron metabolism, says a new study.

A new variant of the gene TMPRSS6 was identified by studying the genome of 4,800 healthy individuals from Australia and the Netherlands.

An iron imbalance can lead to a range of diseases - an overload can cause haemochromatosis which may cause liver failure; a deficiency may result in anaemia, said Beben Benyamin, researchers at the Queensland Institute of Medical Research (QIMR).

This research gives us a better understanding of the genetic influences of iron control and red cell production. We hope to continue to search for other genes involved in the regulation of iron levels in otherwise healthy individuals, Benyamin added.

The variant has been found to be common in all populations. It is estimated that 40 percent of Europeans and 60 percent of Asian populations have this variant, according to a QIMR release.

We have also found that the variant has an additive effect. A person with two copies of the variant has lower iron and haemoglobin levels than those carrying only one copy, explained Benyamin.

The study was undertaken by researchers at QIMR and The University of Queensland in collaboration with institutes in the US and the Netherlands.

The paper was published in the Monday edition of Nature Genetics.