New red blood cell genes 'may help research on anaemia and malaria'

Last Updated: Thu, Dec 06, 2012 11:30 hrs

Research on conditions like anaemia and malaria is set to get a boost following the identification of a clutch of new genes that influence red blood cells.

The discovery comes from an analysis of genetic samples from around 135,000 people, which was carried out by a large international team of researchers.

"This helps us understand the biological mechanisms of what determines formation and function of red blood cells," ABC News quoted Dr Manuel Ferreira from the Queensland Institute of Medical Research in Brisbane as saying.

Red blood cells are important because they contain haemoglobin, which carries oxygen.

According to Ferreira, understanding the genes that impact the formation and function of red blood cells not only helps in basic understanding of biology, it will also help in research on diseases such as anaemia.

To investigate the genetic factors influencing red blood cells, Ferreira and colleagues combined the results of a number of genome-wide association studies.

These studies looked at 2.6 million genetic variants to find out which ones show an association with 6 different red blood cell characteristics, including red blood cell count and haemoglobin concentration.

"There were 75 positions on the genome that were strongly associated with one or more of the red blood cell characteristics," Ferreira said.

He says of the genetic variants identified, 43 had not been previously identified.

Interestingly, says Ferreira, some of the implicated genes are known to be involved in a number of rare blood diseases.

He says this shows variation in the same gene can lead to either slight differences in red blood cell count or haemoglobin concentration, or much more drastic conditions.

Fellow co-author Professor Peter Visscher of the University of Queensland says the team also carried out an RNA-silencing experiment in drosophila and compared the results with those from published mouse studies.

These animal models confirmed the influence of a number of the genes on red blood cells.

"It's interesting because it shows those genes were already important so many hundreds of millions of years ago when a common ancestor of drosophila and humans lived," Visscher said.

The study has been recently published in the journal Nature. (ANI)

More from Sify: