Atypical β-S haplotypes: classification and genetic modulation in patients with sickle cell anemia.

摘要: β-S globin haplotype (βS haplotype) characterization in sickle cell anemia (SCA) patients is important because it assists individualized treatment. However, the patient with atypical haplotypes do not present detailed studies such as clinical and laboratory data. To understand phenotypic expression of relation to typical ones, may be necessary assess main laboratorial parameters investigate transcription factors, possible genetic modulators that can contribute improvement SCA patients’ condition. The study group was composed 600 Brazilian both genders ranging age from 1 68 years. were third most frequent (5.7%) 11 patterns numerically ranked according occurrence. We verified combination Bantu presented milder outcomes Bantu/Bantu Benin/Benin patients, improved values hemoglobin hematocrit. In severity, we did observe significant statistical differences between this result explained reference action factors β-globin cluster. Thus, relationship pathophysiology, reinforcing hypothesis individual responsible for diversity disease.