β-globin gene cluster haplotypes in sickle cell patients from Panamá.

Objective: To analyze the frequency of the haplotypes of β-globin gene cluster in randomly selected patients with sickle cell disease (SCD), attended in the Children's Hospital of Panama.

Methods: Five polymorphic sites in the β-globin gene cluster were analyzed by polymerase chain reaction (PCR) followed by restriction digestion and agarose gel electrophoresis in a total of 100 patients, including 95 homozygous for HbS (sickle cell anemia) and 5 compound heterozygotes for HbS and HbC genes (HbSC disease).

Results: The Bantu haplotype was predominant with a frequency of 51%, followed by the Benin (30%), Senegal (8.

Oxidative stress status, clinical outcome, and β-globin gene cluster haplotypes in pediatric patients with sickle cell disease.

Objective: To correlate the clinical and hematological features of β-globin gene haplotypes with the oxidative stress status in pediatric patients with sickle cell disease (SCD).

Methods: A total of 95 patients with SCD and 40 healthy children were studied. The β-globin cluster, plasma lipid peroxidation (LPO) and plasma nitrite plus nitrate (NOx), and erythrocyte content of glutathione (GSH) and glutathione disulfide (GSSG), and glutathione peroxidase (GPx), reductase (GRd), and superoxide dismutase (SOD) activities were measured.