The HBS1L-MYB intergenic region on chromosome 6q23.3 influences erythrocyte, platelet, and monocyte counts in humans

S Menzel, J Jiang, N Silver, J Gallagher… - Blood, The Journal …, 2007 - ashpublications.org
S Menzel, J Jiang, N Silver, J Gallagher, J Cunningham, G Surdulescu, M Lathrop, M Farrall…
Blood, The Journal of the American Society of Hematology, 2007ashpublications.org
Common sequence variants situated between the HBS1L and MYB genes on chromosome
6q23. 3 (HMIP) influence the proportion of F cells (erythrocytes that carry measurable
amounts of fetal hemoglobin). Since the physiological processes underlying the F-cell
variability are thought to be linked to kinetics of erythrocyte maturation and differentiation, we
have investigated the influence of the HMIP locus on other hematologic parameters. Here
we show a significant impact of HMIP variability on several types of peripheral blood cells …
Abstract
Common sequence variants situated between the HBS1L and MYB genes on chromosome 6q23.3 (HMIP) influence the proportion of F cells (erythrocytes that carry measurable amounts of fetal hemoglobin). Since the physiological processes underlying the F-cell variability are thought to be linked to kinetics of erythrocyte maturation and differentiation, we have investigated the influence of the HMIP locus on other hematologic parameters. Here we show a significant impact of HMIP variability on several types of peripheral blood cells: erythrocyte, platelet, and monocyte counts as well as erythrocyte volume and hemoglobin content in healthy individuals of European ancestry. These results support the notion that changes of F-cell abundance can be an indicator of more general shifts in hematopoietic patterns in humans.
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