title: Sickle cell/β-thalassemia: Comparison of Sβ0and Sβ+Brazilian patients followed at a single institution.
abstract: OBJECTIVE
  In sickle cell/β-thalassemia, mutations in the corresponding β-globin genes are responsible for complex pathological events resulting in diverse clinical complications. The objective of this study was to provide an overview of the clinical and laboratory characteristics of patients with the syndrome, and of the degree of severity of clinical manifestations resulting from the β-thalassemia mutation.
  
  
  METHODS
  A retrospective chart review was performed on 46 patients with sickle cell/β-thalassemia (31 Sβ° and 15 Sβ+), evaluating hematological parameters and end organ damage. Statistical analyzes were carried out in order to highlight differences between the two groups according to the nature of the thalassemia mutation.
  
  
  RESULTS
  As expected, patients with the Sβ0phenotype had a higher degree of hematological involvement in comparison to Sβ+patients; with lower hemoglobin levels, and signs of more intense chronic hemolysis. However, Sβ+patients were more prone to the occurrence of acute chest syndrome. The impact of the thalassemia mutation upon total body and bone composition was also evident, as Sβ0patients presented lower body mass index (BMI) and bone mineral density. The degree of bone damage correlated to lower BMI and hemoglobin levels, as well as plaquetosis, monocytosis and elevated lactate dehydrogenase, possibly reflecting the effects of hemolysis and inflammation upon bone metabolism and body constitution.
  
  
  CONCLUSIONS
  This study identified significant differences among sickle cell/β-thalassemia patients according to the beta mutation involvement, pointing to an important predictor of disease severity.
authors.affiliation: a Hematology and Hemotherapy Center , University of Campinas , Brazil.
authors.forename: Bruno Deltreggia
authors.initials: BD
authors.lastname: Benites
authors.affiliation: a Hematology and Hemotherapy Center , University of Campinas , Brazil.
authors.forename: Stephany Oliveira
authors.initials: SO
authors.lastname: Bastos
authors.affiliation: a Hematology and Hemotherapy Center , University of Campinas , Brazil.
authors.forename: Gabriel
authors.initials: G
authors.lastname: Baldanzi
authors.affiliation: b Division of Nuclear Medicine, Department of Radiology , University of Campinas , Brazil.
authors.forename: Allan de Oliveira
authors.initials: AO
authors.lastname: Dos Santos
authors.affiliation: b Division of Nuclear Medicine, Department of Radiology , University of Campinas , Brazil.
authors.forename: Celso Dario
authors.initials: CD
authors.lastname: Ramos
authors.affiliation: a Hematology and Hemotherapy Center , University of Campinas , Brazil.
authors.forename: Fernando Ferreira
authors.initials: FF
authors.lastname: Costa
authors.affiliation: a Hematology and Hemotherapy Center , University of Campinas , Brazil.
authors.forename: Simone Cristina Olenscki
authors.initials: SC
authors.lastname: Gilli
authors.affiliation: a Hematology and Hemotherapy Center , University of Campinas , Brazil.
authors.forename: Sara Teresinha Olalla
authors.initials: ST
authors.lastname: Saad
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000755:Anemia, Sickle Cell / Q000097:blood / Q000150:complications*; D001938:Brazil; D005260:Female; D006451:Hemoglobin, Sickle / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D012189:Retrospective Studies; D055815:Young Adult; D055544:beta-Globins / Q000235:genetics; D017086:beta-Thalassemia / Q000097:blood / Q000235:genetics*
chemical_list: D006451:Hemoglobin, Sickle; D055544:beta-Globins
keywords: Clinical features; Sickle cell anemia; β-thalassemia