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 Blood, 1 October 2004, Vol. 104, No. 7, pp. 2184-2186.
Prepublished online as a Blood First Edition Paper on June 17, 2004; DOI 10.1182/blood-2004-02-0527.

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RED CELLS
Brief report

Quantitative trait locus on chromosome 8q influences the switch from fetal to adult hemoglobin

Chad Garner, Nicholas Silver, Steve Best, Stephan Menzel, Charlotte Martin, Tim D. Spector, and Swee Lay Thein

From the Epidemiology Division, Department of Medicine, University of California, Irvine; the Department of Environmental Health, Science, and Policy, University of California, Irvine; the Department of Haematological Medicine, Guy's, King's and St Thomas' School of Medicine, London, United Kingdom; and the St Thomas' Twins Register Unit, St Thomas' Hospital, London, United Kingdom.

The switch from fetal to adult hemoglobin is incomplete; the residual fetal hemoglobin in adults is restricted to a subset of erythrocytes called F cells. F-cell levels are influenced by a sequence variant (C -> T) at position -158 upstream of the {gamma}-globin gene, termed the XmnI-G{gamma} polymorphism. How the G{gamma}-158 C -> T variant influences the expression of the G{gamma}-globin gene is unknown but is likely to involve the interaction of a multiprotein transcription complex. In a recent genome-wide linkage study of a large Asian Indian kindred, a genetic interaction between the XmnI-G{gamma} site and a locus on chromosome 8q was reported to influence adult F-cell levels. We report the replication of linkage to chromosome 8q in a sample of European twin pairs. This result provides strong evidence that a quantitative trait locus exists on chromosome 8q that influences the developmental switch from fetal to adult hemoglobin. (Blood. 2004;104:2184-2186)


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