Abstract
Sickle cell disease is a common worldwide disorder that can lead to stroke in affected individuals. This chapter describes the epidemiology, pathophysiology, and genetics that contribute to the onset of this disorder. Evidence-based treatment recommendations are also given.
Keywords
- Sickle Cell Disease
- Sickle Cell Disease Patient
- Secondary Stroke Prevention
- Acute Chest Syndrome
- Tumor Necrosis Factor Gene
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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Benz Edward J. Chapter 99. Disorders of hemoglobin (chapter). In: Fauci AS, Braunwald E, Kasper DL, Hauser SL, Longo DL, Jameson JL, Loscalzo J, editors. Harrison’s principles of internal medicine. McGraw-Hill Professional; 17 edition (March 6, 2008). http://www.accessmedicine.com/content.aspx?aID=2868933
Taylor 6th JG, Tang DC, Savage SA, Leitman SF, Heller SI, Serjeant GR, Rodgers GP, Chanock SJ. Variants in the VCAM1 gene and risk for symptomatic stroke in sickle cell disease. Blood. 2002;100:4303–9.
Asare K, Gee BE, Stiles JK, Wilson NO, Driss A, Quarshie A, Adams RJ, Kutlar A, Hibbert JM. Plasma interleukin-1 beta concentration is associated with stroke in sickle cell disease. Cytokine. 2010;49:39–44.
Chang Milbauer L, Wei P, Enenstein J, Jiang A, Hillery CA, Scott JP, Nelson SC, Bodempudi V, Topper JN, Yang RB, Hirsch B, Pan W, Hebbel RP. Genetic endothelial biology of sickle stroke risk. Blood. 2008;111(7):3872–9.
Verduzco LA, Nathan DG. Sickle cell disease and stroke. Blood. 2009;114(25):5117–25.
Meschia JF, Pankratz VS. Defining stroke risks in sickle cell anemia. Nat Genet. 2005;37(4):340–1.
Roberts L, O’Driscoll S, Dick MC, Height SE, Deane C, Goss DE, Pohl K, Rees DC. Stroke prevention in the young child with sickle cell anaemia. Ann Hematol. 2009;88:943–6.
Melo HA, Barreto-Filho JA, Prado RC, Cipolotti R. Transcranial Doppler in sickle cell anaemia: Evaluation of brain blood flow parameters in children of Aracaju, Northeast-Brazil. Arq Neuropsiquiatr. 2008;66(2B):360–4.
Hoppe C, Klitz W, Cheng S, Apple R, Steiner L, Robles L, Girard T, Vichinsky E, Styles L, CSSCD Investigators. Gene interactions and stroke risk in children with sickle cell anemia. Blood. 2004;103(6):2391–6.
Adams R, McKie V, Nichols F, Carl E, Zhang DL, McKie K, Figueroa R, Litaker M, Thompson W, Hess D. The use of transcranial ultrasonography to predict stroke in sickle cell disease. N Engl J Med. 1992;326:605–10.
Brousse V, Hertz-Pannier L, Consigny Y, Bresson JL, Girot R, Mirre E, Lenoir G, de Montalembert M. Does regular blood transfusion prevent progression of cerebrovascular lesions in children with sickle cell disease? Ann Hematol. 2009;88:785–8.
Adams RJ, McKie VC, Hsu L, Files B, Vichinsky E, Pegelow C, Abboud M, Gallagher D, Kutlar A, Nichols FT, Bonds DR, Brambilla D. Prevention of a first stroke by transfusions in children with sickle cell anemia and abnormal results on transcranial Doppler ultrasonography. N Engl J Med. 1998;339:5–11.
Pavlakis SG, Rees RC, Huang X, Brown RC, Casella JF, Iyer RV, Kalpatthi R, Luden J, Miller ST, Rogers ZR, Thornburg CD, Wang WC, Adams RJ, BABY HUG Investigators. Transcranial Doppler ultrasound (TCD) in infants with sickle cell anemia: baseline data from the BABY HUG trial. Pediatr Blood Cancer. 2010;54:256–9.
Villagra J, Shiva S, Hunter LA, Machado RF, Gladwin MT, Kato GJ. Platelet activation in patients with sickle disease, hemolysis-associated pulmonary hypertension, and nitric oxide scavenging by cell-free hemoglobin. Blood. 2007;110(6):2166–72.
Wang WC. The pathophysiology, prevention, and treatment of stroke in sickle cell disease. Curr Opin Hematol. 2007;14:191–7.
Quinn CT, Variste J, Dowling MM. Haemoglobin oxygen desaturation is a determinant of cerebral artery blood flow velocity in children with sickle cell anaemia. Br J Haematol. 2009;145:500–5.
Nur E, Kim YS, Truijen J, van Beers EJ, Davis SC, Brandjes DP, Biemond BJ, van Lieshout JJ. Cerebrovascular reserve capacity is impaired in patients with sickle cell disease. Blood. 2009;114(16):3473–8.
Kim YS, Nur E, van Beers EJ, Truijen J, Davis SC, Biemond BJ, van Lieshout JJ. Dynamic cerebral autoregulation in homozygous sickle cell disease. Stroke. 2009;40:808–14.
Steinberg MH. Pathophysiologically based drug treatment of sickle cell disease. Trends Pharmacol Sci. 2006;27(4):204–10.
Joiner CH, Platt OS, Lux 4th SE. Cation depletion by the sodium pump in red cells with pathologic cation leaks. Sickle cells and xerocytes. J Clin Invest. 1986;78:1487–96.
Rees DC, Gibson JS. Biomarkers in sickle cell disease. Br J Haematol. 2012;156(4):433–45.
Qari MH, Dier U, Mousa SA. Biomarkers of inflammation, growth factor, and coagulation activation in patients with sickle cell disease. Clin Appl Thromb Hemost. 2012;18(2):195–200.
Hoppe C, Klitz W, D’Harlingue K, Cheng S, Grow M, Steiner L, Noble J, Adams R, Styles L, Stroke Prevention Trial in Sickle Cell Anemia (STOP) Investigators. Confirmation of an association between the TNF(-308) promoter polymorphism and stroke risk in children with sickle cell anemia. Stroke. 2007;38:2241–6.
Brown MD, Wick TM, Eckman JR. Activation of vascular endothelial cell adhesion molecule expression by sickle blood cells. Pediatr Pathol Mol Med. 2001;20:47–72.
Jison ML, Munson PJ, Barb JJ, Suffredini AF, Talwar S, Logun C, Raghavachari N, Beigel JH, Shelhamer JH, Danner RL, Gladwin MT. Blood mononuclear cell gene expression profiles characterize the oxidant, hemolytic, and inflammatory stress of sickle cell disease. Blood. 2004;104:270–80.
Iovannisci DM, Lammer EJ, Steiner L, Cheng S, Mahoney LT, Davis PH, Lauer RM, Burns TL. Association between a leukotriene C4 synthase gene promoter polymorphism and coronary artery calcium in young women: the Muscatine Study. Arterioscler Thromb Vasc Biol. 2007;27:394–9.
Archer DR, Stiles JK, Newman GW, Quarshie A, Hsu LL, Sayavongsa P, Perry J, Jackson EM, Hibbert JM. C-reactive protein and interleukin-6 are decreased in transgenic sickle cell mice fed a high protein diet. J Nutr. 2008;138:1148–52.
Hibbert JM, Hsu LL, Bhathena SJ, Irune I, Sarfo B, Creary MS, Gee BE, Mohamed AI, Buchanan ID, Al-Mahmoud A, Stiles JK. Proinflammatory cytokines and the hypermetabolism of children with sickle cell disease. Exp Biol Med (Maywood). 2005;230:68–74.
Davies CA, Loddick SA, Toulmond S, Stroemer RP, Hunt J, Rothwell NJ. The progression and topographic distribution of interleukin-1 beta expression after permanent middle cerebral artery occlusion in the rat. J Cereb Blood Flow Metab. 1999;19:87–98.
Lusher JM, Haghighat H, Khalifa AS. A prophylactic transfusion program for children with sickle cell anemia complicated by CNS infarction. Am J Hematol. 1976;1:265–73.
Scothorn DJ, Price C, Schwartz D, Terrill C, Buchanan GR, Shurney W, Sarniak I, Fallon R, Chu JY, Pegelow CH, Wang W, Casella JF, Resar LS, Berman B, Adamkiewicz T, Hsu LL, Ohene-Frempong K, Smith-Whitley K, Mahoney D, Scott JP, Woods GM, Watanabe M, Debaun MR. Risk of recurrent stroke in children with sickle cell disease receiving blood transfusion therapy for at least five years after initial stroke. J Pediatr. 2002;104:348–54.
Roach, E.S., et al. Management of stroke in infants and children. A scientific statement from a special writing group of the american heart association stroke council and the council on cardiovascular disease in the young. Stroke. 2008;39:2644–2691.
Management of Sickle Cell Disease. National Institutes of Health. National Heart, Lung, and Blood Institute Division of Blood Diseases and Resources, 2002.
Powars DR, Weiss JN, Chan LS, Schroeder WA. Is there a threshold level of fetal hemoglobin that ameliorates morbidity in sickle cell anemia. Blood. 1984;63:921–6.
Platt OS, Brambilla DJ, Rosse WF, Milner PF, Castro O, Steinberg MH, Klug PP. Mortality in sickle cell disease. Life expectancy and risk factors for early death. N Engl J Med. 1994;330:1639–44.
Hankins J, Aygun B. Pharmacotherapy in sickle cell disease – state of the art and future prospects. Br J Haematol. 2009;145:296–308.
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Nolte, J., Adams, R.J. (2013). Genetics of Sickle Cell Disease and Stroke. In: Sharma, P., Meschia, J. (eds) Stroke Genetics. Springer, London. https://doi.org/10.1007/978-0-85729-209-4_9
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DOI: https://doi.org/10.1007/978-0-85729-209-4_9
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