title: Protector effect of α-thalassaemia on cholecystitis and cholecystectomy in sickle cell disease.
abstract: OBJECTIVE
  Cholecystitis is one of the complications of symptomatic cholelithiasis responsible for high levels of morbidity of sickle cell disease (SCD) patients. Here, we investigated the possible protective role of single gene deletions of α-thalassaemia in the occurrence of cholelithiasis and cholecystitis in SCD patients, as well as the cholecystectomy requirements.
  
  
  METHODS
  The α-globin genotype was determined in 83 SCD patients using the multiplex-polymerase chain reaction and compared with clinical events.
  
  
  RESULTS
  Overall, in 23% of patients, -α3.7deletion was found. α-Thalassaemia concomitant to SCD was an independent protective factor to cholecystitis (OR = 0.07; 95% CI: 0.01-0.66; p = 0.020) and cholecystectomy requirement (OR = 0.14; 95% CI: 0.03-0.60; p = 0.008). The risk of cholelithiasis was not affected by the α-thalassaemia concomitance.
  
  
  CONCLUSIONS
  To the best our knowledge, our study is the first to show the protective effect of α-thalassaemia on cholecystitis and cholecystectomy requirements in SCD, which may be due to an improved splenic function.
authors.affiliation: a Clinical Medicine Postgraduate Program, Faculty of Medicine , Rio de Janeiro Federal University (UFRJ) , Rio de Janeiro , Brazil.
authors.forename: Robéria M
authors.identifier: http://orcid.org/0000-0003-3608-8254
authors.initials: RM
authors.lastname: Pontes
authors.affiliation: a Clinical Medicine Postgraduate Program, Faculty of Medicine , Rio de Janeiro Federal University (UFRJ) , Rio de Janeiro , Brazil.|b Department of Pediatrics, Faculty of Medicine , Institute of Paediatrics and Puericulture Martagão Gesteira (IPPMG) UFRJ , Rio de Janeiro , Brazil.
authors.forename: Elaine S
authors.identifier: http://orcid.org/0000-0002-5340-5816
authors.initials: ES
authors.lastname: Costa
authors.affiliation: a Clinical Medicine Postgraduate Program, Faculty of Medicine , Rio de Janeiro Federal University (UFRJ) , Rio de Janeiro , Brazil.|c Department of Clinical Analysis and Toxicology, School of Pharmacy , Rio de Janeiro Federal University (UFRJ) , Rio de Janeiro , Brazil.
authors.forename: Patrícia F R
authors.identifier: http://orcid.org/0000-0002-9379-0149
authors.initials: PFR
authors.lastname: Siqueira
authors.affiliation: d Internal Medicine Department, Hematology Service , Pedro Ernesto Hospital (HUPE), University of Rio de Janeiro (UERJ) , Rio de Janeiro , Brazil.
authors.forename: Jussara F F
authors.identifier: http://orcid.org/0000-0001-7979-0452
authors.initials: JFF
authors.lastname: Medeiros
authors.affiliation: d Internal Medicine Department, Hematology Service , Pedro Ernesto Hospital (HUPE), University of Rio de Janeiro (UERJ) , Rio de Janeiro , Brazil.
authors.forename: Andréa
authors.identifier: http://orcid.org/0000-0002-1732-1201
authors.initials: A
authors.lastname: Soares
authors.affiliation: a Clinical Medicine Postgraduate Program, Faculty of Medicine , Rio de Janeiro Federal University (UFRJ) , Rio de Janeiro , Brazil.
authors.forename: Fabiana V
authors.identifier: http://orcid.org/0000-0003-0303-3468
authors.initials: FV
authors.lastname: de Mello
authors.affiliation: d Internal Medicine Department, Hematology Service , Pedro Ernesto Hospital (HUPE), University of Rio de Janeiro (UERJ) , Rio de Janeiro , Brazil.
authors.forename: Maria C
authors.identifier: http://orcid.org/0000-0001-9803-5778
authors.initials: MC
authors.lastname: Maioli
authors.affiliation: e Fundation Oswaldo Cruz (Fiocruz) , Rio de Janeiro , Brazil.
authors.forename: Isaac L S
authors.identifier: http://orcid.org/0000-0001-6315-4590
authors.initials: ILS
authors.lastname: Filho
authors.affiliation: f Pharmacy Service, National Institute of Cancer (INCa) , Rio de Janeiro , Brazil.
authors.forename: Liliane R
authors.identifier: http://orcid.org/0000-0001-5743-7084
authors.initials: LR
authors.lastname: Alves
authors.affiliation: a Clinical Medicine Postgraduate Program, Faculty of Medicine , Rio de Janeiro Federal University (UFRJ) , Rio de Janeiro , Brazil.|b Department of Pediatrics, Faculty of Medicine , Institute of Paediatrics and Puericulture Martagão Gesteira (IPPMG) UFRJ , Rio de Janeiro , Brazil.
authors.forename: Marcelo G P
authors.identifier: http://orcid.org/0000-0001-9792-3167
authors.initials: MGP
authors.lastname: Land
authors.affiliation: c Department of Clinical Analysis and Toxicology, School of Pharmacy , Rio de Janeiro Federal University (UFRJ) , Rio de Janeiro , Brazil.
authors.forename: Marcos K
authors.identifier: http://orcid.org/0000-0001-5519-5720
authors.initials: MK
authors.lastname: Fleury
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000755:Anemia, Sickle Cell / Q000150:complications*; D002648:Child; D002675:Child, Preschool; D002763:Cholecystectomy; D002764:Cholecystitis / Q000209:etiology*; D004909:Erythrocyte Indices; D005260:Female; D017353:Gene Deletion; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009017:Morbidity; D016017:Odds Ratio; D010641:Phenotype; D018570:Risk Assessment; D055815:Young Adult; D055542:alpha-Globins / Q000235:genetics; D017085:alpha-Thalassemia / Q000150:complications* / Q000235:genetics
chemical_list: D055542:alpha-Globins
keywords: cholecystectomy; cholecystitis; cholelithiasis; multiplex-PCR; sickle cell disease; α-Thalassaemia