Sickle cell/ß-thalassemia: Comparison of Sß0 and Sß+ Brazilian patients followed at a single institution.

OBJECTIVES: In sickle cell/ß-thalassemia, mutations in the corresponding ß-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 ß-thalassemia mutation. METHODS: A retrospective chart review was performed on 46 patients with sickle cell/ß-thalassemia (31 Sß° and 15 Sß+), 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 Sß0 phenotype had a higher degree of hematological involvement in comparison to Sß+ patients; with lower hemoglobin levels, and signs of more intense chronic hemolysis. However, Sß+ 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 Sß0 patients 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/ß-thalassemia patients according to the beta mutation involvement, pointing to an important predictor of disease severity.

Obesity and cytokines in childhood-onset systemic lupus erythematosus.

BACKGROUND: In systemic lupus erythematosus (SLE), atherosclerosis is attributed to traditional and lupus related risk factors, including metabolic syndrome (MetS), obesity, and inflammation. Objective. To evaluate the association between obesity, measures of body fat content, serum tumor necrosis factor alpha (TNF-α), and interleukin (IL)-6 and -10 levels in childhood-onset SLE (cSLE). METHODS: We screened consecutive cSLE patients followed up in the Pediatric Rheumatology Outpatient Clinic of the State University of Campinas. cSLE patients were assessed for disease and damage. Obesity was definite as body mass index (BMI) ≥30 kg/m(2). Serum TNF-α, IL-6, and IL-10 levels were measured by ELISA. Dual-energy X-ray absorptiometry was used to determine total fat mass, lean mass, and percent of body fat. RESULTS: We included 52 cSLE patients and 52 controls. cSLE patients had higher serum TNF-α (P = 0.004), IL-6 (P = 0.002), and IL-10 (P < 0.001) levels compared to controls. We observed higher serum TNF-α (P = 0.036) levels in cSLE patients with obesity. An association between serum TNF-α levels and body fat percent (P = 0.046) and total fat mass on trunk region (P = 0.035) was observed. CONCLUSION: Serum TNF-α levels were associated with obesity and body fat content in cSLE. Our finding suggests that obesity may contribute to the increase of serum TNF-α levels in cSLE.