Abstract
Since its first report, sickle cell disease (SCD) has attracted the attention of many health professionals and researchers, because its affects about 24.6% of the world population and can cause the death of up to 90% of patients in Africa Sub-Saharan Africa with SCD before 5 years of age. Hemolysis, vaso-occlusive crises, pain crises, chronic inflammation, risk of infarction, thrombosis and stroke are realities constantly faced by the patients affected by this hematologic disorder. The stages of the pathophysiological process, the pathways of activation and molecular aspects are still not fully understood, hence, the patients affected dependent on medical follow-up, periodic examinations, use of medications and even periodic blood transfusions. The objective of the present study was to carry out a bibliographic review aiming at a direct and clear approach to the pathophysiological aspects of the disease discovered and to link them with laboratory tests, drugs used and the recent discoveries made through the research with MicroRNAs.
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References
Alison, A.C.: Notes on sickell—Cell polymorphism. Ann. Hum. Genet. 19(1), 39–14 (1954)
Arend, W., et al.: Tratado de medicina interna, 22ª. Elsevier, Rio de Janeiro (2005)
Ballas, S.K., et al.: Beyond the definitions of the phenotypic complications of sickle cell disease: an update on management. Sci. World J. 2012(Article ID 949535) 55 p (2012)
Boyd, J.H., et al.: Asthma is associated with increased mortality in individuals with sickle cell anemia. Haematologica 92, 1115–1118 (2007)
Cançado, R.D.: Iron overload and iron chelation in sickle cell disease. Rev. Bras. Hematol. Hemoter. 29(3), 316–326 (2007)
Charache, S., et al.: Treatment of sickle cell anemia with 5-azacytidine results in increased fetal hemoglobin production and is associated with nonrandom hypomethylation of DNA around the 6-fi-globin gene complex. Aug Med Sci 80, 4842–4846 (1983)
Di Nuzzo, D.V.P., Fonseca, S.F.: Sickle cell disease and infection. J Pediatr (Rio J). 80(5), 347–54 (2004)
Dos Santos, J.L., Chin, C.M.: Sickle cell disease: challenges and advances in drug discovery. Quim. Nova 35(4), 783–790 (2012)
Dover, G.J., Dover, S.B., Charache, S.: Induction of fetal hemoglobin production in subjects with sickle cell anemia by oral sodium phenylbutyrate. Blood 84(1), 339–343 (1994)
Há, T.Y.: MicroRNAs in human diseases: from lung, liver and kidney diseases to infectious disease, sickle cell disease and endometrium disease. Immune Netw. 11(6), 309–323 (2011)
Haldane, J.B.S.: The rate of mutation of human genes. Hereditas 35(S1), 267–273 (1949)
Herrick, J.B.: Peculiar elongated and sckell shaped red blood cell corpuscles in a case of severe anemia. Arch Int Med 6(5), 517–521 (1910)
Hordijk M.L., et al.: A randomized comparison of electrocautery incision with Savary bougienage for relief of anastomotic gastroesophageal strictures. Gastrointest Endosc. 70(5), 849–55 (2009)
Jain, S., et al.: Expression of regulatory platelet microRNAs in patients with sickle cell disease. PLoS One 8(4), e60932 (2013)
Kato, G.J., Gladwin, M.T., Steinberg, M.H.: Deconstructing sickle cell disease: reappraisal of the role of hemolysis in the development of clinical subphenotypes. Blood Rev. 21, 37–47 (2007)
Labie, D., Elion, J.: Molecular and cellular pathophysiology of sickle cell anemia. Pathol. Biol. (Paris) 47(1), 7–12 (1999)
Lee, R.C., Feinbaum, R.L., Ambrost, V.: The C. elegans heterochronic gene lin-4 encodes small RNAs with antisense complementarity to and II-14. Cell 75, 843–854 (1993)
Lervolino, L.G., et al.: Prevalence of sickel cell trait in national neo—Natal screening studies. Rev. Bras. Hematol. 33(1), 49–54 (2011)
Makani, J., et al.: Health policy for sickel cell disease in Africa. Experience from Tanzania on interventions to reduce under five mortality. Trop. Mes. Int. Health 20(2), 184–187 (2015)
Manfredini, V., et al.: A fisiopatologia da anemia falciforme. Rev. Informa 19(1/2) (2007)
Monteiro, A.C.B., et al.: Sickle cell anemia, a genetic disorder characterized by the change in shape of red blood cells. Saúde em Foco, Edição 07 (2015)
Morris, C.R., et al.: Arginine therapy: a new treatment for pulmonary hypertension in sickle cell disease? Am. J. Respir. Crit. Care Med. 18, 168 (2003)
Morris, C.R., et al.: Arginine therapy: a novel strategy to induce nitric oxide production in sickell cell disease. Br. J. Haematol. 111, 498–500 (2000)
Pereira, T.: Introdução ao mundo dos microRNAs. GeneSeq (2015)
Platt, O.S., et al.: Mortality in sickle cell disease: Life expectancy and risk factors for early death. New Eng. J. Med. 330(23) (1994)
Quinn, C.T., et al.: Improved survival of children with sickle cell disease. Blood 115(17), 3447–3452 (2010)
Rajaratnam, J.K., et al.: Neonatal, postnatal, childhood, and under—5 mortality for 187 countries, 1970–2010: a systematic analysis of Progress Toward Millennium Development Goal. 4. Lancet 375(9730), 1988–2008 (2010)
Rodger, G.P., et al.: Hematologic responses of patientes with sickle cell disesase to treatment with hydroxyurea. New Engl. J. Med. 332(15) (1990)
Scoot, R.B.: Health care priority and sickel cell anemia. JAMA 214(4), 731–734 (1970)
Setty, B.N.Y., Stuart, M.J.: Vascular cell adhesion molecule-l is involved in mediating hypoxia-induced sickle red blood cell adherence to endothelium: potential role in sickle cell disease. Blood 88(6), 2311–2320 (1996)
Shet, A.S., et al.: Sickle blood contains tissue factor–positive microparticles derived from endothelial cells and monocytes. Blood 102(7) (1996)
Solovey, A., et al.: Tissue factor expression by endothelial cells in sickle cell anemia. J. Clin. Invest. Am. Soc. Clin. Invest. 101(9), 1899–1904 (1998). Inc. 0021-9738/98/05/1899/06
Steinberg, M.H.: Management of sickle cell disease. N. Engl. J. Med. 340, 1021–1030 (1999)
Steinberg, M.H.: Predicting clinical severety in sickell cell anemia. Br. J. Haematol. 129(4), 465–481 (2005)
Steinberg, M.H., et al.: Disorders of Hemoglobin. Genetic, Pathophysiology and Clininal Manegement. Cambridge University Press, pp. 231–356 (2001)
Stuart, M.J., Nagel, R.L.: Sickle-cell disease. Lancet 364(9442), 1343–1460 (2004)
Tang, G.N., et al.: MicroRNAs involved in asthma after mesenchymal stem cells treatment. Stem Cells Dev. 25(12) (2016)
Trompeter, S., Roberts, I.: Haemoglobin F modulation in childhood sickle cell disease. 144(3), 308–316 (2001)
Turgeon, M.L.: Clinical Hematology Theory and Procedures, 4th edn. Lippincott Williams and Wilkins, Philadelphia (2004)
Turhan, A., et al.: Primary role for adherent leucocytes in sickle cell vascular occlusion: a new paradigm. PNAS 99(5), 3047–3051 (2002)
Yanni, E., et al.: Trends in pediatric sickell cell disease—Related matality in United States, 1983–2002. J. Pediatr. 154(4), 541–545 (2009)
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Monteiro, A.C.B., Iano, Y., França, R.P. (2019). General Aspects of Pathophysiology, Diagnosis, and Treatment of Sickle Cell Disease. In: Iano, Y., Arthur, R., Saotome, O., Vieira Estrela, V., Loschi, H. (eds) Proceedings of the 3rd Brazilian Technology Symposium. BTSym 2017. Springer, Cham. https://doi.org/10.1007/978-3-319-93112-8_32
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