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An analysis of fetal hemoglobin variation in sickle cell disease: the
relative contributions of the X-linked factor, beta-globin haplotypes,
alpha-globin gene number, gender, and age
YC Chang, KD Smith, RD Moore, GR Serjeant and GJ Dover
Department of Pediatrics, Johns Hopkins University School of Medicine,
Baltimore, MD.
Five factors have been shown to influence the 20-fold variation of fetal
hemoglobin (Hb F) levels in sickle cell anemia (SS): age, sex, the
alpha-globin gene number, beta-globin haplotypes, and an X-linked locus
that regulates the production of Hb F-containing erythrocytes (F cells),
ie, the F-cell production (FCP) locus. To determine the relative importance
of these factors, we studied 257 Jamaican SS subjects from a Cohort group
identified by newborn screening and from a Sib Pair study. Linear
regression analyses showed that each variable, when analyzed alone, had a
significant association with Hb F levels (P < .05). Multiple regression
analysis, including all variables, showed that the FCP locus is the
strongest predictor, accounting for 40% of Hb F variation. beta-Globin
haplotypes, alpha-globin genes, and age accounted for less than 10% of the
variation. The association between the beta-globin haplotypes and Hb F
levels becomes apparent if the influence of the FCP locus is removed by
analyzing only individuals with the same FCP phenotype. Thus, the FCP locus
is the most important factor identified to date in determining Hb F levels.
The variation within each FCP phenotype is modulated by factors associated
with the three common beta-globin haplotypes and other as yet unidentified
factor(s).
Volume 85,
Issue 4,
pp. 1111-1117,
02/15/1995
Copyright © 1995 by The American Society of Hematology
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