Moduladores clínicos em pacientes portadores da doença falciforme no Amazonas

Abstract

Sickle cell disease is considered one of the gravest and existing common genetic disorders in the world. The concentration of fetal hemoglobin, the haplotypes linked to globin gene βSC (HAPLO) and alpha thalassemia (TA) influence the hematological characteristics and pathophysiological clinical manifestations of the disease. This study aimed to describe the clinical modulators in patients with SS and SC profiles treated at HEMOAM. Clinical data were obtained from medical records and haematological and biochemical parameters in automatic analyzers BC5800 and A25, respectively. Molecular analyzes for HAPLO by PCR-RFLP technique, while the RT PCR. Statistical analyzes were performed in SPSS 22.0 and GraphPad Prism 5.0 programs. 222 patients were analyzed with sickle cell disease, and 202 SS and SC 20, with 42.3% for males. Compared hematological and biochemical data between hemoglobin profiles, the SC had better haematological values that the SS, with all statistically significant. The frequency of major clinical events in patients SS were; 47% vaso-occlusive events and 58.9% received at least one blood transfusion in the last 2 years. Nociceptive episodes were observed in the lumbar region at 34.7%, 29.7% abdominal, 32.2% in the lower limbs and 24.8% in the joints. Pneumonia was the most common infection (29.2%). The analysis of clinical events by gender demonstrated the female with higher frequencies to CVO (54.7%), pneumonia (54.2%), stroke (66.7%), retinopathy (60%). The TA was found only in SS patients, with 13.7% heterozygous and 2.8% homozygous. The presence of RT has improved hematological parameters in SS patients with significant values for red blood cells (p = 0.001) and hemoglobin (p = 0.026), hematocrit (p = 0.012), MCV (p = 0.012) and MCH (p = 0.011) . The markers of lipid, hepatic and renal profiles showed no significant values between genotypes of TA. The genotype distribution of haplotypes were for the SS genotype 52.5% CAR / CAR, 23.7% CAR / Ben, 18.1% Ben / Ben, 2.8% CAR / Sen, 1.7% Ben / Sen and 1.1% CAR / Cam, while for 35.3% CAR SC-I, 17.6% CAR-II, 5.9% CAR-III, 29.4% Ben-I and 11.8% Ben-II. The bone changes were more frequent in CAR haplotypes and Ben, are more affected than females (P = 0.017). Stroke was present only CAR / CAR (p <0.001). The vessel seizures - occlusive occurred in over 60% of patients and Ben CAR, and less than 20% in other haplotypes (P <0.001). Carriers of haplotypes Senegal and Cameroon had less severe clinical than CAR and Ben. Fetal hemoglobin concentrations were associated with decrease in clinical events. Our study demonstrates the great clinical diversity displayed between the SS and SC profiles in the Amazon state. The frequency of TA and HAPLO were similar to other studies in some states of Brazil. Based on our results, we conclude that the realization of this study and especially with the series made up a high sample N, contribute to confirm the importance of establishing prognostic factors in AF, as well as contribute to the subphenotypes of disease onset.