Estudo das manifestações clínicas em pessoas com anemia falciforme no Estado do Amapá

Abstract

Introduction : hemoglobinopathies are hemoglobin disorders are preventing it from exercising its function, having as a symptom anemia. The Sickle Cell Anemia is inherited and its main characteristic is deformation of erythrocytes, which change to a sickle shape when in low oxygen tension, disorder caused by a single mutation which produces a multifactorial disease when considering the clinician. Methodology: this study is cross-sectional observational survey with the signs and symptoms developed by carriers of sickle cell disease related to their respective haplotypes. Results: medical records of 44 patients were analyzed with a mean age of 16.7 years, with a minimum of 2 and maximum of 50 years, where 36.4% were female and 63.6% were male. About distribution of haplotypes, Bantu/Bantu 20 (45.5 %), Bantu/Benin 10 (22.7 %), Bantu/Senegal 6 (13.6 %), Benin/Benin 3 (6.8% were found), Benin/Senegal 4 (9.1%), Senegal/Senegal 1 (2.3%). In terms of chromosomes, Bantu 56 (63.6 %), Benin 20 (22.7 %), Senegal 12 (13.6 %) were found. The mean HbF was 7.31 ± 5.57. Regarding the clinical manifestations, splenic sequestration, aplastic anemia, chest syndrome and ulcers of both upper limbs wasn’t observed in this study. Conclusion: the analysis of haplotypes of the 44 patients in Amapá revealed an atypical situation in the profile of haplotypes associated with clinical manifestations, despite a similar distribution of the remaining haplotypes Brazil, where the Bantu have higher frequency, there is a slowdown in clinical manifestations in patients of this study, this is evidenced by the absence of splenic sequestration , aplastic crisis , STA and ulcers. There is a need for a deepening in identifying factors that may be influencing the clinical manifestations presented by these patients through a broader, multidisciplinary study that seeks to elucidate the possible causes of this slowdown