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

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Abstract

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.

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Authors and Affiliations

  1. Faculdade de Farmácia, Universidade Federal do Rio Grande do Sul, Av. Ipiranga 2752, Porto Alegre, RS, 90610-000, Brazil

    Laura Alencastro de Azevedo, Joyce Bonazzoni & Simone Martins de Castro

  2. Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil

    Sandrine Comparsi Wagner

  3. Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil

    Mariela Granero Farias, Christina M. Bittar & Liane Daudt

Authors
  1. Laura Alencastro de Azevedo
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  2. Joyce Bonazzoni
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  3. Sandrine Comparsi Wagner
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  4. Mariela Granero Farias
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  5. Christina M. Bittar
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  6. Liane Daudt
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  7. Simone Martins de Castro
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Corresponding author

Correspondence to Simone Martins de Castro.

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Funding

The authors thank Fundação de Amparo à Pesquisa do Estado do Rio Grande do Sul (FAPERGS), Pró-Reitoria de Pesquisa da Universidade Federal do Rio Grande do Sul (Propesq-UFRGS), and Fundo de Incentivo à Pesquisa e Eventos (FIPE-HCPA) for financial support.

Conflict of interest

JB, LAA, SCW, MGF, CMB, LD, and SMC declare no conflicts of interest that are directly relevant to the content of this study.

Ethics approval

This study was approved by the Hospital de Clínicas de Porto Alegre Institutional Review Board (Study No. 09-425). Informed consent was obtained from all individual participants included in the study.

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de Azevedo, L.A., Bonazzoni, J., Wagner, S.C. et al. Do Alpha Thalassemia, Fetal Hemoglobin, and the UGT1A1 Polymorphism have an Influence on Serum Bilirubin Levels and Cholelithiasis in Patients with Sickle Cell Disease?. Mol Diagn Ther 21, 437–442 (2017). https://doi.org/10.1007/s40291-017-0283-y

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  • DOI: https://doi.org/10.1007/s40291-017-0283-y

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