Red blood cell count is a vital indicator of overall health and depends on a combination of nutritional, medical, environmental and genetic factors. The genetic influence is particularly important, as it determines the body's intrinsic ability to produce and maintain an adequate level of red blood cells, directly impacting the body's ability to efficiently transport oxygen.
Red blood cell count
Red blood cells are responsible for transporting oxygen from the lungs to the tissues and for carrying carbon dioxide from the tissues back to the lungs for elimination. An adequate red blood cell count is essential for maintaining optimal tissue oxygenation, and any significant deviation from normal levels may indicate underlying health problems.
Factors affecting the red blood cell count are varied. Among the main ones are nutrition, especially levels of iron, vitamin B12 and folic acid, which are essential for hemoglobin production and maturation of red blood cells in the bone marrow. The health of the bone marrow itself is another critical factor, as it is the site where red blood cells are generated. Diseases that affect the bone marrow, such as aplastic anemia or leukemias, can significantly reduce red blood cell production.
Medical conditions and lifestyles also play a role. Anemia, a condition characterized by a low red blood cell or hemoglobin count, can be caused by chronic blood loss, chronic diseases, infections, or autoimmune disorders. On the other hand, dehydration can lead to an apparent elevation of the red blood cell count due to decreased plasma volume. Physical exercise and adaptations to altitude may also play a role; for example, living at high altitude stimulates the production of red blood cells to compensate for the reduced availability of oxygen.
Number of observed variants
13.5 million variants
Number of risk loci
1103 loci
Genes analyzed
Bibliography
Chen M.H., Raffield L.M., et al. Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations. Cell, 01 Sep 2020, 182(5):1198-1213.e14.
Xiang R., Liu Y., et al. Genome-wide analyses of variance in blood cell phenotypes provide new insights into complex trait biology and prediction. Version 1. medRxiv. Preprint. 2024 Apr 16.
Pilling L.C., Atkins J.L., et al. Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers. PLoS One. 2017; 12(9): e0185083.
