Gilbert's syndrome accounts for the phenotypic variability of congenital dyserythropoietic anemia type II (CDA-II)

The molecular basis for the considerable variation of serum bilirubin levels and the incidence of gallstone formation in patients with congenital dyserythropoietic anemia (CDA) type II are unknown. We show that the combined effect of an increased bilirubin load caused by dyserythropoiesis in CDA II...

Full description

Saved in:
Bibliographic Details
Published in:The Journal of pediatrics 2000-04, Vol.136 (4), p.556-559
Main Authors: Perrotta, Silverio, del Giudice, Miraglia, Carbone, Ruggiero, Servedio, Veronica, Schettini, Federico, Nobili, Bruno, Iolascon, Achille
Format: Article
Language:English
Subjects:
Adolescent
Adult
Anemia, Dyserythropoietic, Congenital - complications
Anemia, Dyserythropoietic, Congenital - genetics
Anemias. Hemoglobinopathies
Biological and medical sciences
Child
Child, Preschool
Cholelithiasis - etiology
Cholelithiasis - genetics
Diseases of red blood cells
Female
Genetic Variation
Gilbert Disease - complications
Gilbert Disease - genetics
Hematologic and hematopoietic diseases
Homozygote
Humans
Hyperbilirubinemia - etiology
Hyperbilirubinemia - genetics
Italy
Male
Medical sciences
Monosaccharide Transport Proteins - genetics
Pedigree
Phenotype
Retrospective Studies
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:The molecular basis for the considerable variation of serum bilirubin levels and the incidence of gallstone formation in patients with congenital dyserythropoietic anemia (CDA) type II are unknown. We show that the combined effect of an increased bilirubin load caused by dyserythropoiesis in CDA II and decreased bilirubin conjugation caused by reduced expression of uridine diphosphate glucuronosyl transferase (UGT1A) would increase the risk of hyperbilirubinemia (P < .005) and gallstone formation (X2: P < .001). The rate of gallstone formation in patients with CDA II is 4.75-fold the rate of patients without Gilbert's syndrome, and gallstone diagnosis occurs at a younger age (P < 0.01). These findings should be considered during the follow-up of patients with CDA II.
ISSN:0022-3476
1097-6833
DOI:10.1016/S0022-3476(00)90026-X