The SC disease is really prevalent in Brazil, mainly in Bahia, being that the patients present a severe anemia but
with less clinical complications than SS homozygous. The patients with SC disease have less painful crisis,
infections, skeletal involvement, anemia, and priapism. The aim of the present study was to investigate the hemoglobin
C and S globin gene haplotypes distribution among 63 individual with SC disease from Northeast Brazil, associating
with their phenotype. Our results show that the studied patients have mild anemia (hemoglobin median=10.88 g/
dL) and slightly high fetal hemoglobin levels (median=3.06%). The ?-thalassemia3.4Kb deletion was found in 18
(28%) patients. The most frequent ?C and ?S globin gene haplotypes were CAR and Benin. We have not found any
association among the globin haplotypes and clinical events of the patients, however further studies need to be
developed to confirm the finding related to the SC disease patients.
Keywords: Sickle cell disease, SC disease, thalassemia, haplotypes.