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Disease Markers
Volume 2017 (2017), Article ID 6359871, 11 pages
Research Article

Laboratory and Genetic Biomarkers Associated with Cerebral Blood Flow Velocity in Hemoglobin SC Disease

1Centro de Pesquisas Gonçalo Moniz, Fundação Oswaldo Cruz, Rua Waldemar Falcão, 121, Candeal, 40.296-710 Salvador, BA, Brazil
2Universidade Federal da Bahia, Avenida Adhemar de Barros, s/n, Ondina, 40.170-110 Salvador, BA, Brazil
3Ambulatório Pediátrico de Doença Cerebrovascular, Hospital Universitário Professor Edgard Santos, Universidade Federal da Bahia, Rua Augusto Viana, s/n, Canela, 40110-060 Salvador, BA, Brazil
4Serviço de Pediatria, Hospital Universitário Professor Edgard Santos, Universidade Federal da Bahia, Rua Augusto Viana, sn°, Canela, 40110-060 Salvador, BA, Brazil
5Universidade Salvador, Laureate International Universities, Av. Luís Viana, 3146, Imbuí, 41720-200 Salvador, BA, Brazil

Correspondence should be addressed to Marilda Souza Goncalves

Received 8 January 2017; Revised 15 April 2017; Accepted 31 May 2017; Published 16 July 2017

Academic Editor: Dennis W. T. Nilsen

Copyright © 2017 Rayra Pereira Santiago et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. M. H. Steinberg and G. P. Rodgers, “Pathophysiology of sickle cell disease: role of cellular and genetic modifiers,” Seminars in Hematology, vol. 38, no. 4, pp. 299–306, 2001. View at Google Scholar
  2. R. L. Nagel, M. E. Fabry, and M. H. Steinberg, “The paradox of hemoglobin SC disease,” Blood Reviews, vol. 17, no. 3, pp. 167–178, 2003. View at Google Scholar
  3. F. Lionnet, N. Hammoudi, K. S. Stojanovic et al., “Hemoglobin sickle cell disease complications: a clinical study of 179 cases,” Haematologica, vol. 97, no. 8, pp. 1136–1141, 2012. View at Google Scholar
  4. D. C. Rees and J. S. Gibson, “Biomarkers in sickle cell disease,” British Journal of Haematology, vol. 156, no. 4, pp. 433–445, 2012. View at Google Scholar
  5. K. Ohene-Frempong, S. J. Weiner, L. A. Sleeper et al., “Cerebrovascular accidents in sickle cell disease: rates and risk factors,” Blood, vol. 91, no. 1, pp. 288–294, 1998. View at Google Scholar
  6. J. Broderick, G. T. Talbot, E. Prenger, A. Leach, and T. Brott, “Stroke in children within a major metropolitan area: the surprising importance of intracerebral hemorrhage,” Journal of Child Neurology, vol. 8, no. 3, pp. 250–255, 1993. View at Google Scholar
  7. R. Adams, V. McKie, F. Nichols et al., “The use of transcranial ultrasonography to predict stroke in sickle cell disease,” The New England Journal of Medicine, vol. 326, no. 9, pp. 605–610, 1992. View at Google Scholar
  8. R. J. Adams, D. Brambilla, and Optimizing Primary Stroke Prevention in Sickle Cell Anemia Trial I, “Discontinuing prophylactic transfusions used to prevent stroke in sickle cell disease,” The New England Journal of Medicine, vol. 353, no. 26, pp. 2769–2778, 2005. View at Publisher · View at Google Scholar · View at Scopus
  9. C. R. Deane, D. Goss, S. O'Driscoll et al., “Transcranial Doppler scanning and the assessment of stroke risk in children with HbSC [corrected] disease,” Archives of Disease in Childhood, vol. 93, no. 2, pp. 138–141, 2008. View at Google Scholar
  10. C. Vieira, C. N. Oliveira, L. A. Figueiredo et al., “Transcranial Doppler in hemoglobin SC disease,” Pediatric Blood & Cancer, vol. 64, no. 5, 2017. View at Publisher · View at Google Scholar
  11. I. F. Domingos, D. A. Falcao, B. L. Hatzlhofer et al., “Influence of the betas haplotype and alpha-thalassemia on stroke development in a Brazilian population with sickle cell anaemia,” Annals of Hematology, vol. 93, no. 7, pp. 1123–1129, 2014. View at Google Scholar
  12. A. R. Belisario, F. L. Nogueira, R. S. Rodrigues et al., “Association of alpha-thalassemia, TNF-alpha (-308G>A) and VCAM-1 (c.1238G>C) gene polymorphisms with cerebrovascular disease in a newborn cohort of 411 children with sickle cell anemia,” Blood Cells, Molecules & Diseases, vol. 54, no. 1, pp. 44–50, 2015. View at Publisher · View at Google Scholar · View at Scopus
  13. A. C. Leite, R. V. Oliveira, P. G. Moura, C. M. Silva, and C. Lobo, “Abnormal transcranial Doppler ultrasonography in children with sickle cell disease,” Revista Brasileira de Hematologia e Hemoterapia, vol. 34, no. 4, pp. 307–310, 2012. View at Google Scholar
  14. P. Li and C. Qin, “Methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and susceptibility to ischemic stroke: a meta-analysis,” Gene, vol. 535, no. 2, pp. 359–364, 2014. View at Google Scholar
  15. F. Bernaudin, S. Verlhac, S. Chevret et al., “G6PD deficiency, absence of alpha-thalassemia, and hemolytic rate at baseline are significant independent risk factors for abnormally high cerebral velocities in patients with sickle cell anemia,” Blood, vol. 112, no. 10, pp. 4314–4317, 2008. View at Google Scholar
  16. J. G. Taylor, D. C. Tang, S. A. Savage et al., “Variants in the VCAM1 gene and risk for symptomatic stroke in sickle cell disease,” Blood, vol. 100, no. 13, pp. 4303–4309, 2002. View at Publisher · View at Google Scholar · View at Scopus
  17. K. Ohene-Frempong, “Stroke in sickle cell disease: demographic, clinical, and therapeutic considerations,” Seminars in Hematology, vol. 28, no. 3, pp. 213–219, 1991. View at Google Scholar
  18. H. M. Bramlett and W. D. Dietrich, “Long-term consequences of traumatic brain injury: current status of potential mechanisms of injury and neurological outcomes,” Journal of Neurotrauma, vol. 32, no. 23, pp. 1834–1848, 2015. View at Google Scholar
  19. D. J. Weatherall, “The inherited diseases of hemoglobin are an emerging global health burden,” Blood, vol. 115, no. 22, pp. 4331–4336, 2010. View at Google Scholar
  20. D. Giustarini, R. Rossi, A. Milzani, and I. Dalle‐Donne, “Nitrite and nitrate measurement by Griess reagent in human plasma: evaluation of interferences and standardization,” Methods in Enzymology, vol. 440, pp. 361–380, 2008. View at Google Scholar
  21. Z. J. Foka, A. F. Lambropoulos, H. Saravelos et al., “Factor V Leiden and prothrombin G20210A mutations, but not methylenetetrahydrofolate reductase C677T, are associated with recurrent miscarriages,” Human Reproduction, vol. 15, no. 2, pp. 458–462, 2000. View at Publisher · View at Google Scholar
  22. M. Gonçalves, J. Nechtman, M. Figueiredo et al., “Sickle cell disease in a Brazilian population from São Paulo: a study of the βS haplotypes,” Human Heredity, vol. 44, no. 6, pp. 322–327, 1994. View at Google Scholar
  23. K. Lanclos, C. Oner, A. Dimovski, Y. C. Gu, and T. H. Huisman, “Sequence variations in the 5'flanking and IVS-II regions of the G gamma-and A gamma-globin genes of beta S chromosomes with five different haplotypes,” Blood, vol. 77, no. 11, pp. 2488–2496, 1991. View at Google Scholar
  24. E. Foglietta, G. Deidda, B. Graziani, G. Modiano, and I. Bianco, “Detection of alpha-globin gene disorders by a simple PCR methodology,” Haematologica, vol. 81, no. 5, pp. 387–396, 1996. View at Google Scholar
  25. I. Prohovnik, S. G. Pavlakis, S. Piomelli et al., “Cerebral hyperemia, stroke, and transfusion in sickle cell disease,” Neurology, vol. 39, no. 3, pp. 344–348, 1989. View at Google Scholar
  26. J. Kapitulnik, “Bilirubin: an endogenous product of heme degradation with both cytotoxic and cytoprotective properties,” Molecular Pharmacology, vol. 66, no. 4, pp. 773–779, 2004. View at Google Scholar
  27. B. Balkaran, G. Char, J. S. Morris, P. W. Thomas, B. E. Serjeant, and G. R. Serjeant, “Stroke in a cohort of patients with homozygous sickle cell disease,” The Journal of Pediatrics, vol. 120, no. 3, pp. 360–366, 1992. View at Google Scholar
  28. J. D. Belcher, P. H. Marker, J. P. Weber, R. P. Hebbel, and G. M. Vercellotti, “Activated monocytes in sickle cell disease: potential role in the activation of vascular endothelium and vaso-occlusion,” Blood, vol. 96, no. 7, pp. 2451–2459, 2000. View at Google Scholar
  29. J. T. Rogers, “Ferritin translation by interleukin-1 and interleukin-6: the role of sequences upstream of the start codons of the heavy and light subunit genes,” Blood, vol. 87, no. 6, pp. 2525–2537, 1996. View at Google Scholar
  30. J. J. C. Kroot, C. M. M. Laarakkers, E. H. J. M. Kemna, B. J. Biemond, and D. W. Swinkels, “Regulation of serum hepcidin levels in sickle cell disease,” Haematologica, vol. 94, no. 6, pp. 885–887, 2009. View at Google Scholar
  31. R. P. Rother, L. Bell, P. Hillmen, and M. T. Gladwin, “The clinical sequelae of intravascular hemolysis and extracellular plasma hemoglobin: a novel mechanism of human disease,” JAMA, vol. 293, no. 13, pp. 1653–1662, 2005. View at Google Scholar
  32. J. A. French 2nd, D. Kenny, J. P. Scott et al., “Mechanisms of stroke in sickle cell disease: sickle erythrocytes decrease cerebral blood flow in rats after nitric oxide synthase inhibition,” Blood, vol. 89, no. 12, pp. 4591–4599, 1997. View at Google Scholar
  33. S. I. Jaja, S. O. Ogungbemi, M. O. Kehinde, and C. N. Anigbogu, “Supplementation with l-arginine stabilizes plasma arginine and nitric oxide metabolites, suppresses elevated liver enzymes and peroxidation in sickle cell anaemia,” Pathophysiology, vol. 23, no. 2, pp. 81–85, 2016. View at Google Scholar
  34. P. Webster and O. Castro, “Red cell distribution width in sickle cell disease,” Annals of Clinical & Laboratory Science, vol. 16, no. 4, pp. 274–277, 1986. View at Google Scholar
  35. A. S. Bowers, H. L. Reid, A. Greenidge, C. Landis, and M. Reid, “Blood viscosity and the expression of inflammatory and adhesion markers in homozygous sickle cell disease subjects with chronic leg ulcers,” PLoS One, vol. 8, no. 7, article e68929, 2013. View at Google Scholar
  36. K. Li, N. Murai, and S. Chi, “Clinical reasoning in the use of slings for patients with shoulder subluxation after stroke: a glimpse of the practice phenomenon in California,” OTJR: Occupation, Participation and Health, vol. 33, no. 4, pp. 228–235, 2013. View at Publisher · View at Google Scholar · View at Scopus
  37. S. T. Miller, R. F. Rieder, S. P. Rao, and A. K. Brown, “Cerebrovascular accidents in children with sickle-cell disease and alpha-thalassemia,” The Journal of Pediatrics, vol. 113, no. 5, pp. 847–849, 1988. View at Google Scholar
  38. G. J. Kato, M. T. Gladwin, and M. H. Steinberg, “Deconstructing sickle cell disease: reappraisal of the role of hemolysis in the development of clinical subphenotypes,” Blood Reviews, vol. 21, no. 1, pp. 37–47, 2007. View at Publisher · View at Google Scholar · View at Scopus
  39. S. A. Sarnaik and S. K. Ballas, “Molecular characteristics of pediatric patients with sickle cell anemia and stroke,” American Journal of Hematology, vol. 67, no. 3, pp. 179–182, 2001. View at Google Scholar
  40. R. J. Adams, V. C. McKie, L. Hsu et al., “Prevention of a first stroke by transfusions in children with sickle cell anemia and abnormal results on transcranial Doppler ultrasonography,” New England Journal of Medicine, vol. 339, no. 1, pp. 5–11, 1998. View at Google Scholar
  41. A. Sumoza, R. Bisotti, D. Sumoza, and V. Fairbanks, “Hydroxyurea (HU) for prevention of recurrent stroke in sickle cell anemia (SCA),” American Journal of Hematology, vol. 71, no. 3, pp. 161–165, 2002. View at Google Scholar