|
|
 Previous Article | Table of Contents | Next Article 
Blood, Vol. 94 No. 7 (October 1), 1999:
pp. 2259-2262
Coinheritance of Gilbert Syndrome Increases the Risk for Developing
Gallstones in Patients With Hereditary Spherocytosis
Emanuele Miraglia del Giudice,
Silverio Perrotta,
Bruno Nobili,
Claudia Specchia,
Giovanna d'Urzo, and
Achille Iolascon
From the Department of Pediatrics, Second University of Naples,
Naples, Italy; the Department of Health Sciences, Biostatistics Unit,
University of Genoa, Italy; and the Department of Pediatrics,
University of Bari, Bari, Italy.
The precocious formation of bilirubinate gallstones is the most
common complication of hereditary spherocytosis (HS), and the
prevention of this problem represents a major impetus for splenectomy
in many patients with compensated hemolysis. Because Gilbert syndrome
has been considered a risk factor for gallstone formation, there are
reasons for postulating that the association of this common inherited
disorder of hepatic bilirubin metabolism with HS could increase
cholelithiasis. To test this hypothesis, 103 children with mild to
moderate HS who, from age 1, have undergone a liver and biliary tree
ultrasonography every year, were retrospectively examined. The 2-bp
(TA) insertion within the promoter of the uridine diphosphate-glucuronosyltransferase gene (UGT1A1), associated with
Gilbert syndrome, was screened. The risk of developing gallstones was
statistically different among the 3 groups of patients: homozygotes for
the normal UGT1A1 allele, heterozygotes, and homozygotes for the allele
with the TA insertion. Fitting a Cox regression model, in
fact, a statistically significant hazard ratio of 2.19 (95% confidence
interval: 1.31 to 3.66) was estimated from one to the next of these
genetic classes. The individual proneness to form gallstones from TA
insertion in the TATA-box of the UGT1A1 promoter should be considered
during the follow-up of patients with HS. Although patients with HS
were the only ones studied, extrapolating these data to patients who
have different forms of inherited (eg, thalassemia, intraerythrocytic
enzymatic deficiency) or acquired (eg, autoimmune hemolytic anemia,
hemolysis from mechanical heart valve replacement) chronic hemolysis
can be warranted.
 CiteULike  Connotea  Del.icio.us  Digg  Reddit  Technorati What's this?
This article has been cited by other articles:
|
|
|
|
 
A. Iolascon and R. A. Avvisati
Genotype/phenotype correlation in hereditary spherocytosis
Haematologica,
September 1, 2008;
93(9):
1283 - 1288.
[Full Text]
[PDF]
|
|
|
|
|
|
|
E. V. Haverfield, C. A. McKenzie, T. Forrester, N. Bouzekri, R. Harding, G. Serjeant, T. Walker, T. E. A. Peto, R. Ward, and D. J. Weatherall
UGT1A1 variation and gallstone formation in sickle cell disease
Blood,
February 1, 2005;
105(3):
968 - 972.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
P H B Bolton-Maggs
Hereditary spherocytosis; new guidelines
Arch. Dis. Child.,
September 1, 2004;
89(9):
809 - 812.
[Full Text]
[PDF]
|
|
|
|
|
|
|
D. H. K. Chui, S. Fucharoen, and V. Chan
Hemoglobin H disease: not necessarily a benign disorder
Blood,
February 1, 2003;
101(3):
791 - 800.
[Full Text]
[PDF]
|
|
|
|
|
|
|
L. J. Bruce, S. Ghosh, M. J. King, D. M. Layton, W. J. Mawby, G. W. Stewart, P.-A. Oldenborg, J. Delaunay, and M. J. A. Tanner
Absence of CD47 in protein 4.2-deficient hereditary spherocytosis in man: an interaction between the Rh complex and the band 3 complex
Blood,
August 13, 2002;
100(5):
1878 - 1885.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
E. Beutler
Discrepancies between genotype and phenotype in hematology: an important frontier
Blood,
November 1, 2001;
98(9):
2597 - 2602.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
