Publication in Nature: new insights into the formation of red blood cells

New research has identified hereditary regions in DNA, which help to form red blood cells and determine the amount of haemoglobin in these cells. This knowledge will now form the basis for further research into how anaemia and other blood disorders develop. UMCG scientist Dr Pim van der Harst is first author of an article published in today’s edition of the leading scientific journal Nature.

Haemoglobin is a protein in red cells, responsible for transporting oxygen from the lungs to other tissues in the body. Hundreds of millions of new blood cells are made every single day. Anaemia develops if too few new blood cells are produced, or if the cells contain too little haemoglobin.

‘Although the underlying mechanisms in the majority of the DNA regions we identified still need to be explored in more detail, this study provides new insights that will give us a better understanding of how the body regulates the number of red blood cells it produces and how it copes with a shortage of oxygen’, says Van der Harst.

43 new regions

The researchers carried out what is known as a genome-wide association study (GWAS). This study showed that 75 genetic regions are involved in the formation of red blood cells and determining the amount of haemoglobin in these cells. Forty-three of these regions were discovered for the first time. The research was based on data relating to approximately 135,000 people from 23 national screening programmes from all around the world.

LifeLines and PREVEND

Van der Harst coordinated the large-scale genetic study together with Prof. John Chambers of Imperial College London. They also made use of data from the major screening programme LifeLines, which monitors the health of 165,000 people in the north of the Netherlands, and the Groningen PREVEND study, which is investigating the excretion of protein via urine as an early sign of renal and/or cardiovascular disease. Data from studies using model organisms (such as mice and fruit flies) was also used.

The genetic regions identified by the researchers also hold the key to a person’s blood group. Further research will try to find out which genes are responsible for causing the blood to develop an immune reaction. ‘Using this genetic information will enable us to make faster and more accurate decisions about whether the blood of a donor matches that of a would-be recipient. This will help to prevent rare but serious complications that sometimes arise after a blood transfusion’, says Van der Harst.