Do Alpha Thalassemia, Fetal Hemoglobin, and the UGT1A1 Polymorphism have an Influence on Serum Bilirubin Levels and Cholelithiasis in Patients with Sickle Cell Disease?

Autor: de Azevedo LA; Faculdade de Farmácia, Universidade Federal do Rio Grande do Sul, Av. Ipiranga 2752, Porto Alegre, RS, 90610-000, Brazil., Bonazzoni J; Faculdade de Farmácia, Universidade Federal do Rio Grande do Sul, Av. Ipiranga 2752, Porto Alegre, RS, 90610-000, Brazil., Wagner SC; Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil., Farias MG; Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Bittar CM; Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Daudt L; Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., de Castro SM; Faculdade de Farmácia, Universidade Federal do Rio Grande do Sul, Av. Ipiranga 2752, Porto Alegre, RS, 90610-000, Brazil. simonecastro13@gmail.com.
Jazyk: angličtina
Zdroj: Molecular diagnosis & therapy [Mol Diagn Ther] 2017 Aug; Vol. 21 (4), pp. 437-442.
DOI: 10.1007/s40291-017-0283-y
Abstrakt: Background: Increased destruction of erythrocytes in patients with sickle cell disease results in chronic hyperbilirubinemia and leads to the formation of gallstones.
Objectives: The objective of this study was to determine the combined influence of alpha thalassemia, fetal hemoglobin, and the UGT1A1 polymorphism on serum bilirubin levels and cholelithiasis in patients with sickle cell disease.
Methods: We analyzed 72 patients treated in the outpatient hematology unit of the Clinical Hospital of Porto Alegre. The alpha thalassemia trait was determined by multiplex polymerase chain reaction and the polymorphisms of UGT1A1 by capillary electrophoresis with tagged primers.
Results: Total and indirect bilirubin levels differed significantly between genotypes TA7/TA7 and TA6/TA6 (p < 0.05). Bilirubin levels were influenced by the UGT1A1 polymorphism but not by alpha thalassemia and fetal hemoglobin. There was no association between cholelithiasis and any of the variables studied.
Conclusion: These preliminary findings suggest that the UGT1A1 gene can influence serum bilirubin levels in sickle cell anemia and serve as a tool to differentiate an acute hemolytic condition from a pre-existing condition of hyperbilirubinemia.
Databáze: MEDLINE
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