Clinical, Hematological, and Molecular Features in Sicilians with Sickle Cell Disease

Abstract

We report the clinical, hematological, and molecular findings observed in 32 Sicilian patients with sickle cell disease. None of our patients received regular blood transfusions and careful infectious disease prophylaxis was carried out for all. Haplo-typing of βs chromosomes was performed in all patients; all were homozygous for haplotype #19 (Benin). Gene mapping excluded the presence of an α-thalassemia in 13 of our patients; none of the relatives showed any evidence of the presence of α-thalassemia. Hb F levels were 11.8 ± 5.9% with G_γ representing 39.6 ± 3.6% of total γ chain. Hb F levels were higher in females than in males (12.5 ± 5.9% versus 9.7 ± 6.5%) but the difference was not statistically significant. All patients, regardless of age and sex, were anemic with normal mean corpuscular hemoglobin concentration, high mean corpuscular volume and mean corpuscular hemoglobin, and mild reticulocytosis. Analysis of clinical manifestations suggests that our patients have a disease of moderate severity.