Genetic finding facilitates the diagnosis of anaemia
The size of red blood cells and blood haemoglobin content are used to classify types of anaemia. Factors that influence the function and formation of red blood cells can now be identified more efficiently. In a new international research genetic analysis was combined with results from red blood cell tests. The article was published in the highly-esteemed scientific journal Nature on 5 December 2012.
“The research found new genetic loci which are potentially useful in the closer diagnosis of such disorders and conditions as anaemia,” says Terho Lehtimäki, Professor of clinical chemistry at the University of Tampere.
Anomalies in the blood count can be genetic or caused by the environment. In order to enable analyses of the genetic regulation of the blood count, the research combined an examination of the genetic loci in the whole human genome, a wide and detailed analysis of the blood count of 135,000 people and a statistical meta-analysis.
Professor Lehtimäki said that 75 genetic loci were found to have an effect on the human red blood cells in the meta-analysis of the international research data.
To investigate the new function mechanisms of the genes, the research applied the RNA interference method that silenced the investigated genes in the fruit fly model and in the corresponding knock-out model in mice. The silencing of the factor that is involved in the formation of stem cells and its receptor (KITLG/KIT) led to a diminished number of red blood cells, anaemia and other haematological disorders in mice. 41 of the analysed genetic loci were functional and had an effect on the formation of blood cells.
According to Professor Lehtimäki, the research produced more specified information on the formation of blood cells and the function of red blood cells.
“More accurate information on red blood cells facilitates research on blood disorders. The research result can also advance stem cell research and drug development for blood diseases.”
The Finnish part of the research was funded by the Academy of Finland. The LASERI project on the Cardiovascular Risk in Young Finns and the Northern Finland Birth Cohort Studies, NFBC, were the Finnish projects involved in the research.
Professor Terho Lehtimäki is the responsible researcher of the genetic part of the LASERI research project. Academy Professor Olli Raitakari from the University of Turku is the coordinator in charge of LASERI. The birth cohort study in Northern Finland is directed by Professor Marjo-Riitta Järvelin.
Red blood cells and anaemia
- Anaemia is one of the most common diagnoses in basic health care and it is caused among others by malnutrition, deficiency of iron, vitamin B12 or folate and different chronic diseases. 2.
- The haemoglobin content of red blood cells and their function also affect physical and cognitive performance. 3.
- People who abuse alcohol have larger than average red blood cells.
The article:
Seventy-five genetic loci influencing the human red blood cell. Nature (2012) doi:10.1038/nature11677
The article can be found online
The Academy of Finland press release (in Finnish)
For further information please contact:
Professor Terho Lehtimäki, University of Tampere
tel. +358 (0)3 3117 4066 or +358 (0)50 4336 285
terho.lehtimaki@uta.fi
