Τίτλος:
Concordant fetal hemoglobin response to hydroxyurea in siblings with
sickle cell disease
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Fetal hemoglobin (HbF) level and the HbF responses to hydroxyurea (HU)
vary among patients with sickle cell disease and are, at least in part,
genetically regulated. We hypothesized that siblings with sickle cell
disease are likely to share the same parental beta-like globin gene
clusters with their cis-acting regulatory sequences and therefore, if
regulation of this response is linked to the beta-globin gene cluster,
might have concordant HbF responses to HU. Accordingly, we studied 26
families (30 sib pairings), 20 with sickle cell anemia (three families
had three siblings) and 6 families with HbS-beta-thalassemia (one family
had three siblings, and one family consisted of monozygotic twins), to
see if siblings with sickle cell disease had discordant or concordant
changes in HbF during HU treatment. Intraclass correlation coefficients
(r) showed a high, positive correlation between sibs for HbF levels
before and during HU treatment and a concordant change in HbF response
from baseline to treatment-associated levels. Changes in mean
corpuscular volume (MCV) paralleled HbF levels, while the expected
correlations between treatment-associated fall in leukocyte count and
increase in MCV were also present. Our results provide additional
evidence that some elements that regulate HbF expression are linked to
the beta-globin gene cluster. (C) 2003 Wiley-Liss, Inc.
Συγγραφείς:
Steinberg, MH
Voskaridou, E
Kutlar, A
Loukopoulos, D and
Koshy, M
Ballas, SK
Castro, O
Barton, F
Περιοδικό:
American Journal of Hematology
Λέξεις-κλειδιά:
globin gene expression; beta-thalassemia; gamma-globin gene
