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Delayed decline of γ ‐globin expression in infant age associated with the presence of G γ −158 (C→T) polymorphism
Author(s) -
GROSSO M.,
AMENDOLARA M.,
RESCIGNO G.,
DANISE P.,
TODISCO N.,
IZZO P.,
AMENDOLA G.
Publication year - 2008
Publication title -
international journal of laboratory hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.705
H-Index - 55
eISSN - 1751-553X
pISSN - 1751-5521
DOI - 10.1111/j.1751-553x.2007.00946.x
Subject(s) - fetal hemoglobin , linkage disequilibrium , biology , globin , gene , genetics , gene expression , fetus , hemoglobin , allele , haplotype , pregnancy , biochemistry
Summary Persistent production of fetal hemoglobin (HbF) in adult has ameliorative effects on hemoglobinopathies and great efforts are currently made to achieve an exhaustive understanding of the molecular mechanisms of the switching in globin gene expression. One of the factors reported to be associated with the expression of fetal globin genes is the Xmn I G γ −158 polymorphism, although it is still unclear if it is involved in this mechanism either by itself or in strong linkage disequilibrium with other loci. Here, we report a novel effect of the Xmn I G γ −158 site that was found associated with a significant delayed decline of HbF production in infant age. The prolonged decay trend was enhanced when the G γ −158 C→T substitution was co‐inherited with a β ‐thalassemic trait. Our observations reinforce the hypothesis that this region plays an important role in the expression of the γ ‐globin genes and give new insights on the intriguing and still poorly understood mechanisms of globin gene expression switching.