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 Blood, 15 November 2007, Vol. 110, No. 10, pp. 3624-3626.
Prepublished online as a Blood First Edition Paper on August 21, 2007; DOI 10.1182/blood-2007-05-093419.

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HEMATOPOIESIS

Brief Report

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

Stephan Menzel1, Jie Jiang1, Nicholas Silver1, Joy Gallagher2, Juliette Cunningham1, Gabriela Surdulescu3, Mark Lathrop4, Martin Farrall5, Tim D. Spector3, and Swee Lay Thein1,2

1 King's College London School of Medicine, Division of Gene and Cell Based Therapy, London, United Kingdom; 2 King's College Hospital, Department of Haematological Medicine, London, United Kingdom; 3 King's College London School of Medicine, Division of Genetics and Molecular Medicine, London, United Kingdom; 4 Centre National de Génotypage, Institut Génomique, Commissariat à l'Energie Atomique, Evry, France; 5 Wellcome Trust Centre for Human Genetics, Oxford, United Kingdom

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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