ET-1 and ecNOS gene polymorphisms andsusceptibility to acute chest syndrome and painful vaso-occlusive crises in children with sickle cell anemia.

The association of endothelin 1 (ET-1) and endothelial constitutive nitric oxide synthase (ecNOS) gene polymorphisms (G5665T and T8002C, VNTR and T-786C respectively) with the occurrence of acute chest syndrome and painful vaso-occlusive crises was evaluated in homozygous SS children. This retrospective study reveals that ET-1 T8002 and ecNOS C-786 alleles are associated with, respectively, an increased and a decreased risk of acute chest syndrome.

UGT1A1 polymorphism outweighs the modest effect of deletional (-3.7 kb) alpha-thalassemia on cholelithogenesis in sickle cell anemia.

Enhanced erythrocyte destruction in sickle cell anemia results in chronic hyperbilirubinemia. Only a subset of patients develop cholelithiasis. UGT1A1 promoter polymorphism is associated both with unconjugated bilirubin level and elevated risk for cholelithiasis in such subset.

Sickle cell anemia in Guadeloupean children: pattern and prevalence of acute clinical events.

We analyzed the records of 153 Guadeloupean children with sickle cell anemia (SCA), for whom clinical and laboratory data were prospectively collected (mean follow-up duration 8.4 +/- 4.6 yr).

Early onset dactylitis associated with the occurrence of severe events in children with sickle cell anaemia. The Paediatric Cohort of Guadeloupe (1984-99).

Dactylitis or hand-foot syndrome is related to intravascular sickling and classically occurs around 6 months of life when haemoglobin S levels reach pathological significance. It has been hypothesised as a possible predictive factor of adverse outcome. The objective of this study was to estimate the survival without severe events (acute chest syndrome, stroke or death) according to early occurrence of dactylitis in the sickle cell paediatric cohort of Guadeloupe.

Association of UGT1A1 polymorphism with prevalence and age at onset of cholelithiasis in sickle cell anemia.

Background And Objectives: High levels of erythrocyte destruction in sickle cell anemia (SCA) result in chronic hyperbilirubinemia, with cholelithiasis occurring in a subset of patients. We investigated whether susceptibility to cholelithiasis in SCA was associated with the promoter polymorphism of the 5?-diphosphate-glucuronosyltransferase 1A1 (UGT1A1) gene encoding a key enzyme in bilirubin catabolism.

Design And Methods: We determined the frequencies of UGT1A1 promoter alleles in 171 SCA children and 153 SCA adults regularly followed for a number of years at the Guadeloupe sickle cell center.