Clinical, Hematologica And Molecular Characterization Of Sickle Cell Disease Pediatric Patients From Two Different Regions Of Brazil

Sickle cell disease is a Public Health problem in Brazil where hemoglobin S has been found in a frequency of 6.9 to 15.4%. At the present, we compare clinical, hematological and molecular data from pédiatrie sickle cell patients from Sao Paulo (SP), the biggest sate of Brazil, located at the Southeast and Bahia (BA), at the Northeast, with the highest rate of race admixture and a high African compound. We analyzed Vlsickle cell patients (31 from SP and 40 BA).Hematological parameters were measured in a Coulter Count T-890 and hemoglobin background were identified by eletrophoresis on cellulose acetate strips and agar citrate, pH5,3 and Hb A2 and fetal quantification. The molecular analysis of beta -globin haplotypes was performed by DNA digestion with four different restriction enzymes (XmnI, Hindlll, Hindi and Hinfl) relating to six polymorphic sites. Alphathalassemia 2 (alpha-tha!2) was investigated by Southern Blotting technique by DNA digestion with Bam HI and Bgl II restriction enzymes. The number of hospitalization by vaso-oclusive and or infection episodes, stroke and cholelithiasis were investigated. Statistical analysis were performed by the t student test. Spearman correlation coeficient, [ ]2 and Man-Whitney tests. Ours results did not find hematological difference from the two groups studied. Patients from SP had more stroke episodes (16.1%) than those from BA (5%). Sao Paulo had a higher periods of hospitalization by vaso-occlusive episodes (3.9 days) than BA (1.8 days) and also more cholelithiasis (22.6% in SP and 13.1% in BA). Differently of BA, the two groups of patients from SP, alfa-tha!2 carriers and normal alfa-genes presented stroke episodes, in a frequency of 14.9% and 12.5% respectively. Normal alpha-genes patients from SP had more vaso-occlusive hospitalization (4.9%) than the same BA patients group (0.62%). The BEN haplotype predominates in Salvador and the CAR in SP. The data suggest that BA sickle cell pédiatrie patients studied here, probably suggest severe clinical evolution when compared to SP patients, demonstrating a need of further similar studies from different sickle anemia population.9611 PART I