75 New Genetic Regions Suspected to Influence Red Blood Cell Formation

A team of reserchers from Imperial College, London have gotten closer to revealing how red blood cells are formed and also how the body regulates the amount of haemoglobin that is packaged inside red blood cells. The researchers used genomic analysis techniques to figure out the possible genetic regions linked to red blood cell formatiom.

Hundreds of millions of fresh red blood cells have to be formed by blood stem cells to replace the ones that die each day. Haemoglobin is what gives blood its red color and it is a protein that captures oxygen from the lungs for transport and delivery to tissues. If there is an insuficient production of red blood cells than anaemia can occur, which is a very common disorder.  "This new genetic information is laying the foundations for future studies into the roots of anaemia by uncovering new biological pathways and mechanisms involved in controlling the size and number of red blood cells and the levels of haemoglobin."-Medical News Today.



By using the genomes of 135,367 people the researchers were able to identify 75 genetic regions that directly influenced six different physical parameters of red blood cells. More than half of these genetic regions are new in people. By using computational biology they found more than 3,000 genes that are responsible for protein production that lie close to these 75 regions. They then choose 121 'candidate' genes suspected to regulate a red blood cell trait and investigated their functions. The researchers used model systems from databases and also new data from fruit flies. They found that 29 out of the 121 genes were linked to red blood cell formation in mice. Also if these genes were turned off in mice than red blood cell production would be minimized. To gather even more information the researchers silenced the 121 genes in fruit flies. Eventhough fruitflies dont have red blood cells they still  share some of the gene functions leading to the formation of blood elements. Once the genes were silenced the data collected confirmed that sets of genes involved in controlling human red blood cell traits in people were also important for the formation of blood cells in fly. Dr Nicole Soranzo said, "This is exciting because it means that we can obtain extensive new insights into the genetics and biological pathway of human health by studying model organisms." Eventhough the researcher's study is not finished and the underlying mechanisms for most of the discovered genes are still unknown, their research could lead to better understanding of red blood cells and also better treatment for anaemia.

I think any new discovery about such an important part of our body is interesting. Before reading this i did not know that we were unaware of how red blood cells were produced and regulated. Hopefully this will open the doors to further discoveries and eventually we will completely understand how red blood cells are controlled in humans.