Sickle cell disease: a malady beyond a hemoglobin defect in cerebrovascular disease

References

• Herrick JB. Peculiar elongated and sickle-shaped red blood corpuscles in a case of severe anemia. 1910. Yale J Biol Med. 2001;74:179–184.
   PubMedGoogle Scholar
• Pauling L, Itano HA. Sickle cell anemia a molecular disease. Science. 1949;110:543–8)
   PubMed Web of Science ®Google Scholar
• Ingram VM. A specific chemical difference between the globins of normal human and sickle-cell anaemia haemoglobin. Nature. 1956;178:792–4.
   PubMed Web of Science ®Google Scholar
• Ataga KI, Kutlar A, Kanter J, et al. Crizanlizumab for the prevention of pain crises in sickle cell disease. N Engl J Med. 2017;376:429–439.
   PubMed Web of Science ®Google Scholar
• FDA. 2017. FDA approved L-glutamine powder for the treatment of sickle cell disease. https://www.fda.gov:80/FDAgov/Drugs/InformationOnDrugs/ApprovedDrugs/ucm566097.htm. Web. Access date: 2 September 2017.
   Google Scholar
• Ribeil JA, Hacein-Bey-Abina S, Payen E, et al. Gene therapy in a patient with sickle cell disease. N Engl J Med. 2017;376:848–855.
   PubMed Web of Science ®Google Scholar
• Gluckman E, Cappelli B, Bernaudin F, et al. Sickle cell disease: an international survey of results of HLA-identical sibling hematopoietic stem cell transplantation. Blood. 2017;129:1548–56.
   PubMed Web of Science ®Google Scholar
• Taylor SM, Parobek CM, Fairhurst RM. Haemoglobinopathies and the clinical epidemiology of malaria: a systematic review and meta-analysis. Lancet Infect Dis. 2012;12:457–68.
   PubMed Web of Science ®Google Scholar
• Luzzatto L. Sickle cell anaemia and malaria. Mediterr J Hematol Infect Dis. 2012;4:e2012065.
   PubMedGoogle Scholar
• Piel FB, Tatem AJ, Huang Z, et al. Global migration and the changing distribution of sickle haemoglobin: a quantitative study of temporal trends between 1960 and 2000. Lancet Glob Health. 2014;2:e80–9.
   PubMed Web of Science ®Google Scholar
• Schroeder W, Munger E, Powars D. Sickle cell anaemia, genetic variations, and the slave trade to the United States. J Afr Hist. 1990;163–180.
   Web of Science ®Google Scholar
• Gabriel APJ. Sickle-cell anemia: a look at global haplotype. Nature Education; 2010.
   Google Scholar
• Key NS, Derebail VK. Sickle-cell trait: novel clinical significance. Hematology Am Soc Hematol Educ Program. 2010;2010:418–22.
   PubMed Web of Science ®Google Scholar
• Hassell KL. Population estimates of sickle cell disease in the U.S. Am J Prev Med. 2010;38:S512–21.
   PubMedGoogle Scholar
• Yusuf HR, Atrash HK, Grosse SD, et al. Emergency department visits made by patients with sickle cell disease: a descriptive study, 1999-2007. Am J Prev Med. 2010;38:S536–41.
   PubMed Web of Science ®Google Scholar
• Ojodu J, Hulihan MM, Pope SN, et al. Incidence of sickle cell trait–United States, 2010. MMWR Morb Mortal Wkly Rep. 2014;63:1155–1158.
   PubMed Web of Science ®Google Scholar
• WHO. 2016. Sickle cell disease. national resource directory. [Internet] https://www.cdc.gov/ncbddd/sicklecell/map/text-nationalresourcedirectory.html. Web. Access date: 22 October 2017.
   Google Scholar
• Voskaridou E, Christoulas D, Bilalis A, et al. The effect of prolonged administration of hydroxyurea on morbidity and mortality in adult patients with sickle cell syndromes: results of a 17-year, single-center trial (LaSHS). Blood. 2010;115:2354–2363.
   PubMed Web of Science ®Google Scholar
• Lanzkron S, Carroll CP, Haywood C. Mortality rates and age at death from sickle cell disease: U.S., 1979–2005. Public Health Rep. 2013;128:110–116.
   PubMed Web of Science ®Google Scholar
• Dressler W, Stein R. Uber den hydroxylharnstoff. Jusutus Liebig’s Ann Chem Pharm. 1869;150:242–252.
   Google Scholar
• Letvin NL, Linch DC, Beardsley GP, et al. Augmentation of fetal-hemoglobin production in anemic monkeys by hydroxyurea. N Engl J Med. 1984;310:869–73.
   PubMed Web of Science ®Google Scholar
• Platt OS, Orkin SH, Dover G, et al. Hydroxyurea enhances fetal hemoglobin production in sickle cell anemia. J Clin Invest. 1984;74:652–6.
   PubMed Web of Science ®Google Scholar
• CDC. World Sickle Cell Day [Internet] http://www.cdc.gov/mmwr/volumes/65/wr/mm6523a6.htm. Web. Access date: 2 September 2017.
   Google Scholar
• What is the global sickle cell disease network? http://globalsicklecelldisease.org/index.aspx. Web. Access date 2 September 2017.
   Google Scholar
• Kwiatkowski JL, Zimmerman RA, Pollock AN, et al. Silent infarcts in young children with sickle cell disease. Br J Haematol. 2009;146:300–5.
   PubMed Web of Science ®Google Scholar
• Bernaudin F, Verlhac S, Arnaud C, et al. Chronic and acute anemia and extracranial internal carotid stenosis are risk factors for silent cerebral infarcts in sickle cell anemia. Blood. 2015;125:1653–61.
   PubMed Web of Science ®Google Scholar
• Ohene-Frempong K, Weiner SJ, Sleeper LA, et al. Cerebrovascular accidents in sickle cell disease: rates and risk factors. Blood. 1998;91:288–94.
   PubMed Web of Science ®Google Scholar
• Broderick J, Talbot GT, Prenger E, et al. Stroke in children within a major metropolitan area: the surprising importance of intracerebral hemorrhage. J Child Neurol. 1993;8:250–5.
   PubMed Web of Science ®Google Scholar
• Knowlton SM, Sencan I, Aytar Y, et al. Sickle cell detection using a smartphone. Sci Rep. 2015;5:15022.
   PubMed Web of Science ®Google Scholar
• Badawy SM, Thompson AA, Liem RI. Technology access and smartphone app preferences for medication adherence in adolescents and young adults with sickle cell disease. Pediatr Blood Cancer. 2016;63:848–52.
   PubMed Web of Science ®Google Scholar
• Rahimy MC, Gangbo A, Ahouignan G, et al. Newborn screening for sickle cell disease in the Republic of Benin. J Clin Pathol. 2009;62:46–8.
   PubMed Web of Science ®Google Scholar
• Cober MP, Phelps SJ. Penicillin prophylaxis in children with sickle cell disease. J Pediatr Pharmacol Ther. 2010;15:152–9.
   PubMedGoogle Scholar
• Charache S, Terrin ML, Moore RD, et al. Effect of hydroxyurea on the frequency of painful crises in sickle cell anemia. Investigators of the multicenter study of hydroxyurea in sickle cell Anemia. N Engl J Med. 1995;332:1317–22.
   PubMed Web of Science ®Google Scholar
• Thornburg CD, Files BA, Luo Z, et al. Impact of hydroxyurea on clinical events in the BABY HUG trial. Blood. 2012;120:4304–10; quiz 448.
   Web of Science ®Google Scholar
• Steinberg MH, Barton F, Castro O, et al. Effect of hydroxyurea on mortality and morbidity in adult sickle cell anemia: risks and benefits up to 9 years of treatment. Jama. 2003;289:1645–1651.
   PubMed Web of Science ®Google Scholar
• Kassim AA, Galadanci NA, Pruthi S, et al. How I treat and manage strokes in sickle cell disease. Blood. 2015;125:3401–10.
   PubMed Web of Science ®Google Scholar
• Ware RE, Davis BR, Schultz WH, et al. Hydroxycarbamide versus chronic transfusion for maintenance of transcranial doppler flow velocities in children with sickle cell anaemia-TCD with transfusions changing to hydroxyurea (TWiTCH): a multicentre, open-label, phase 3, non-inferiority trial. Lancet. 2016;387:661–670.
   PubMed Web of Science ®Google Scholar
• Fitzhugh CD, Wigfall DR, Ware RE. Enalapril and hydroxyurea therapy for children with sickle nephropathy. Pediatr Blood Cancer. 2005;45:982–5.
   PubMed Web of Science ®Google Scholar
• Anders DG, Tang F, Ledneva T, et al. Hydroxyurea use in young children with sickle cell Anemia in New York State. Am J Prev Med. 2016;51:S31–8.
   PubMed Web of Science ®Google Scholar
• Archer N, Galacteros F, Brugnara C. Clinical trials update in sickle cell anemia. Am J Hematol. 2015;90(934–50):2015.
   Google Scholar
• Wong TE, Brandow AM, Lim W, et al. Update on the use of hydroxyurea therapy in sickle cell disease. Blood. 2014;124:3850–7; quiz 4004.
   Web of Science ®Google Scholar
• Brawley OW, Cornelius LJ, Edwards LR, et al. National Institutes of health consensus development conference statement: hydroxyurea treatment for sickle cell disease. Ann Intern Med. 2008;148:932–8.
   PubMed Web of Science ®Google Scholar
• Stettler N, McKiernan CM, Melin CQ, et al. Proportion of adults with sickle cell anemia and pain crises receiving hydroxyurea. Jama. 2015;313:1671–2.
   PubMed Web of Science ®Google Scholar
• Niihara Y, Zerez CR, Akiyama DS, et al. Oral L–glutamine therapy for sickle cell anemia: I. Subjective clinical improvement and favorable change in red cell NAD redox potential. Am J Hematol. 1998;58:117–21.
   PubMed Web of Science ®Google Scholar
• Niihara Y, Koh H, Tran L, et al. A phase 3 study of l-glutamine therapy for sickle cell anemia and sickle ß0-thalassemia. Blood. 2014;124.
   Web of Science ®Google Scholar
• Morris CR, Hamilton-Reeves J, Martindale RG, et al. Acquired amino acid deficiencies: a focus on arginine and glutamine. Nutr Clin Pract. 2017;32:30S–47S.
   PubMed Web of Science ®Google Scholar
• McMahon L, Tamary H, Askin M, et al. A randomized phase II trial of Arginine Butyrate with standard local therapy in refractory sickle cell leg ulcers. Br J Haematol. 2010;151:516–24.
   PubMed Web of Science ®Google Scholar
• Morris CR, Kuypers FA, Lavrisha L, et al. A randomized, placebo-controlled trial of arginine therapy for the treatment of children with sickle cell disease hospitalized with vaso-occlusive pain episodes. Haematologica. 2013;98:1375–82.
   PubMed Web of Science ®Google Scholar
• Powars DR, Chan LS, Hiti A, et al. Outcome of sickle cell anemia: a 4-decade observational study of 1056 patients. Medicine (Baltimore). 2005;84:363–376.
   PubMed Web of Science ®Google Scholar
• Gavins FN, Russell J, Senchenkova EL, et al. Mechanisms of enhanced thrombus formation in cerebral microvessels of mice expressing hemoglobin-S. Blood. 2011;117:4125–4133.
   PubMed Web of Science ®Google Scholar
• Steen RG, Miles MA, Helton KJ, et al. Cognitive impairment in children with hemoglobin SS sickle cell disease: relationship to MR imaging findings and hematocrit. AJNR Am J Neuroradiol. 2003;24:382–9.
   PubMed Web of Science ®Google Scholar
• Prengler M, Pavlakis SG, Prohovnik I, et al. Sickle cell disease: the neurological complications. Ann Neurol. 2002;51:543–52.
   PubMed Web of Science ®Google Scholar
• DeBaun MR, Gordon M, McKinstry RC, et al. Controlled trial of transfusions for silent cerebral infarcts in sickle cell anemia. N Engl J Med. 2014;371:699–710.
   PubMed Web of Science ®Google Scholar
• Vichinsky EP, Neumayr LD, Gold JI, et al. Neuropsychological dysfunction and neuroimaging abnormalities in neurologically intact adults with sickle cell anemia. Jama. 2010;303:1823–31.
   PubMed Web of Science ®Google Scholar
• Adams RJ. Stroke prevention and treatment in sickle cell disease. Arch Neurol. 2001;58:565–8.
   PubMedGoogle Scholar
• Verduzco LA, Nathan DG. Sickle cell disease and stroke. Blood. 2009;114:5117–25.
   PubMed Web of Science ®Google Scholar
• Zimmerman SA, Schultz WH, Burgett S, et al. Hydroxyurea therapy lowers transcranial Doppler flow velocities in children with sickle cell anemia. Blood. 2007;110:1043–7.
   PubMed Web of Science ®Google Scholar
• Nevitt SJ, Jones AP, Howard J. Hydroxyurea (hydroxycarbamide) for sickle cell disease. Cochrane Database Syst Rev. 2017;4:CD002202.
   PubMedGoogle Scholar
• Platt OS, Brambilla DJ, Rosse WF, et al. Mortality in sickle cell disease. Life expectancy and risk factors for early death. N Engl J Med. 1994;330:1639–44.
   PubMed Web of Science ®Google Scholar
• Gladwin MT, Kato GJ. Cardiopulmonary complications of sickle cell disease: role of nitric oxide and hemolytic anemia. Hematology Am Soc Hematol Educ Program. 2005;1:51–57.
   Google Scholar
• Hayes MM, Vedamurthy A, George G, et al. Pulmonary hypertension in sickle cell disease. Ann Am Thorac Soc. 2014;11:1488–9.
   PubMedGoogle Scholar
• Perronne V, Roberts-Harewood M, Bachir D, et al. Patterns of mortality in sickle cell disease in adults in France and England. Hematol J. 2002;3:56–60.
   PubMedGoogle Scholar
• Fitzhugh CD, Lauder N, Jonassaint JC, et al. Cardiopulmonary complications leading to premature deaths in adult patients with sickle cell disease. Am J Hematol. 2010;85:36–40.
   PubMed Web of Science ®Google Scholar
• Vichinsky EP, Neumayr LD, Earles AN, et al. Causes and outcomes of the acute chest syndrome in sickle cell disease. National Acute Chest Syndrome Study Group. N Engl J Med. 2000;342:1855–65.
   PubMed Web of Science ®Google Scholar
• Miller ST. How I treat acute chest syndrome in children with sickle cell disease. Blood. 2011;117:5297–305.
   PubMed Web of Science ®Google Scholar
• Boyd JH, Macklin EA, Strunk RC, et al. Asthma is associated with acute chest syndrome and pain in children with sickle cell anemia. Blood. 2006;108:2923–7.
   PubMed Web of Science ®Google Scholar
• Knight-Madden JM, Barton-Gooden A, Weaver SR, et al. Mortality, asthma, smoking and acute chest syndrome in young adults with sickle cell disease. Lung. 2013;191:95–100.
   PubMed Web of Science ®Google Scholar
• Paul R, Minniti CP, Nouraie M, et al. Clinical correlates of acute pulmonary events in children and adolescents with sickle cell disease. Eur J Haematol. 2013;91:62–8.
   PubMed Web of Science ®Google Scholar
• Nouraie M, Rana RS, Castro OL, et al. Predictors of mortality in children and adolescents with sickle cell disease: the PUSH study. Blood. 2011;118:515.
   Web of Science ®Google Scholar
• Farmakis D, Aessopos A. Pulmonary hypertension associated with hemoglobinopathies: prevalent but overlooked. Circulation. 2011;123:1227–32.
   PubMed Web of Science ®Google Scholar
• Klings ES, Machado RF, Barst RJ, et al. An official American thoracic society clinical practice guideline: diagnosis, risk stratification, and management of pulmonary hypertension of sickle cell disease. Am J Respir Crit Care Med. 2014;189:727–40.
   PubMed Web of Science ®Google Scholar
• Platt OS, Thorington BD, Brambilla DJ, et al. Pain in sickle cell disease. Rates and risk factors. N Engl J Med. 1991;325:11–6.
   PubMed Web of Science ®Google Scholar
• Yawn BP, Buchanan GR, Afenyi-Annan AN, et al. Management of sickle cell disease: summary of the 2014 evidence-based report by expert panel members. Jama. 2014;312:1033–1048.
   PubMed Web of Science ®Google Scholar
• Ballas SK. New era dawns on sickle cell pain. Blood. 2010;116:311–2.
   PubMed Web of Science ®Google Scholar
• Ruta NS, Ballas SK. The opioid drug epidemic and sickle cell disease: guilt by association. Pain Med. 2016;17:1793–8.
   PubMed Web of Science ®Google Scholar
• Aisiku IP, Smith WR, McClish DK, et al. Comparisons of high versus low emergency department utilizers in sickle cell disease. Ann Emerg Med. 2009;53:587–93.
   PubMed Web of Science ®Google Scholar
• Carroll CP, Lanzkron S, Haywood C, et al. Chronic opioid therapy and central sensitization in sickle cell disease. Am J Prev Med. 2016;51:S69–77.
   PubMed Web of Science ®Google Scholar
• Mvundura M, Amendah D, Kavanagh PL, et al. Health care utilization and expenditures for privately and publicly insured children with sickle cell disease in the United States. Pediatr Blood Cancer. 2009;53:642–6.
   PubMed Web of Science ®Google Scholar
• Kauf TL, Coates TD, Huazhi L, et al. The cost of health care for children and adults with sickle cell disease. Am J Hematol. 2009;84:323–7.
   PubMed Web of Science ®Google Scholar
• Wang WC, Oyeku SO, Luo Z, et al. Hydroxyurea is associated with lower costs of care of young children with sickle cell anemia. Pediatrics. 2013;132:677–83.
   PubMed Web of Science ®Google Scholar
• Welkom JS. The impact of sickle cell disease on the family: an examination of the illness intrusiveness framework (Ph.D thesis). Retrieved from Pyschology Dissertations, Scholar works database at George State University; 2012.
   Google Scholar
• Anie KA, Green J. Psychological therapies for sickle cell disease and pain. Vol. CD001916. Cochrane Database Syst Rev. 2015.
   Google Scholar
• Grosse SD, Schechter MS, Kulkarni R, et al. Models of comprehensive multidisciplinary care for individuals in the United States with genetic disorders. Pediatrics. 2009;123:407–12.
   PubMed Web of Science ®Google Scholar
• NIH. The management of sickle cell disease [Internet] https://www.nhlbi.nih.gov/files/docs/guidelines/sc_mngt.pdf (2002). Web. Access date: 2 September 2017.
   Google Scholar
• CDC. National resource directory [Internet] https://www.cdc.gov/ncbddd/sicklecell/documents/sicklecelldirectory_508.pdf (2016). Web. Access date: 2 September 2017.
   Google Scholar
• Mainous AG, Tanner RJ, Harle CA, et al. Attitudes toward management of sickle cell disease and its complications: a national survey of academic family physicians. Anemia. 2015;2015:853835.
   PubMedGoogle Scholar
• Hebbel RP, Osarogiagbon R, Kaul D. The endothelial biology of sickle cell disease: inflammation and a chronic vasculopathy. Microcirculation. 2004;11:129–51.
   PubMed Web of Science ®Google Scholar
• Ataga KI, Key NS. Hypercoagulability in sickle cell disease: new approaches to an old problem. Hematology Am Soc Hematol Educ Program. 2007;91–6.
   Google Scholar
• Wood KC, Hsu LL, Gladwin MT. Sickle cell disease vasculopathy: a state of nitric oxide resistance. Free Radic Biol Med. 2008;44:1506–28.
   PubMed Web of Science ®Google Scholar
• Chen G, Zhang D, Fuchs TA, et al. Heme-induced neutrophil extracellular traps contribute to the pathogenesis of sickle cell disease. Blood. 2014; 123:3818–27.
   PubMed Web of Science ®Google Scholar
• Hebbel RP. Ischemia-reperfusion injury in sickle cell anemia: relationship to acute chest syndrome, endothelial dysfunction, arterial vasculopathy, and inflammatory pain. Hematol Oncol Clin North Am. 2014;28:181–98.
   PubMed Web of Science ®Google Scholar
• Esmon CT. Crosstalk between inflammation and thrombosis. Maturitas. 2008;61:122–31.
   PubMed Web of Science ®Google Scholar
• Sparkenbaugh E, Pawlinski R. Interplay between coagulation and vascular inflammation in sickle cell disease. Br J Haematol. 2013;162:3–14.
   PubMed Web of Science ®Google Scholar
• Mackman N. New insights into the mechanisms of venous thrombosis. J Clin Invest. 2012;122:2331–6.
   PubMed Web of Science ®Google Scholar
• Ataga KI, Moore CG, Hillery CA, et al. Coagulation activation and inflammation in sickle cell disease-associated pulmonary hypertension. Haematologica. 2008;93:20–6.
   PubMed Web of Science ®Google Scholar
• Wright JG, Malia R, Cooper P, et al. Protein C and protein S in homozygous sickle cell disease: does hepatic dysfunction contribute to low levels? Br J Haematol. 1997;98:627–31.
   PubMed Web of Science ®Google Scholar
• Hebbel RP, Key NS. Microparticles in sickle cell anaemia: promise and pitfalls. Br J Haematol. 2016;174:16–29.
   PubMed Web of Science ®Google Scholar
• Chaplin H Jr., Monroe MC, Malecek AC, et al. Preliminary trial of minidose heparin prophylaxis for painful sickle cell crises. East Afr Med J. 1989;66:574–84.
   PubMedGoogle Scholar
• Salvaggio JE, Arnold CA, Banov CH. Long-term anti-coagulation in sickle-cell disease. A clinical study. N Engl J Med. 1963;269:182–6.
   PubMed Web of Science ®Google Scholar
• Buller HR, Bethune C, Bhanot S, et al. Factor XI antisense oligonucleotide for prevention of venous thrombosis. N Engl J Med. 2015;372:232–40.
   PubMed Web of Science ®Google Scholar
• Zhang D, Xu C, Manwani D, et al. Neutrophils, platelets, and inflammatory pathways, at the nexus of sickle cell disease pathophysiology. Blood. 2016.
   Web of Science ®Google Scholar
• Anyaegbu CC, Okpala IE, Akren’Ova YA, et al. Peripheral blood neutrophil count and candidacidal activity correlate with the clinical severity of sickle cell anaemia (SCA). Eur J Haematol. 1998;60:267–8.
   PubMed Web of Science ®Google Scholar
• Schimmel M, Nur E, Biemond BJ, et al. Nucleosomes and neutrophil activation in sickle cell disease painful crisis. Haematologica. 2013;98:1797–803.
   PubMed Web of Science ®Google Scholar
• Sun N, Zhao H. Seamless correction of the sickle cell disease mutation of the HBB gene in human induced pluripotent stem cells using TALENs. Biotechnol Bioeng. 2014;111:1048–53.
   PubMed Web of Science ®Google Scholar
• Li C, Ding L, Sun CW, et al. Novel HDAd/EBV reprogramming vector and highly efficient Ad/CRISPR-cas sickle cell disease gene correction. Sci Rep. 2016;6:30422.
   PubMed Web of Science ®Google Scholar
• Locatelli F, Kabbara N, Ruggeri A, et al. Outcome of patients with hemoglobinopathies given either cord blood or bone marrow transplantation from an HLA-identical sibling. Blood. 2013;122:1072–8.
   PubMed Web of Science ®Google Scholar
• Lê PQ, Gulbis B, Dedeken L, et al. Survival among children and adults with sickle cell disease in Belgium: benefit from hydroxyurea treatment. Pediatr Blood Cancer. 2015;62:1956–61.
   PubMed Web of Science ®Google Scholar
• Hsieh MM, Fitzhugh CD, Weitzel RP, et al. Nonmyeloablative HLA-matched sibling allogeneic hematopoietic stem cell transplantation for severe sickle cell phenotype. Jama. 2014;312:48–56.
   PubMed Web of Science ®Google Scholar
• CDC. SCD: Data and Statistics. https://www.cdc.gov/ncbddd/sicklecell/data.html (2016). Web. Access date: 2 September 2017.
   Google Scholar
• Brousseau DC, Panepinto JA, Nimmer M, et al.The number of people with sickle-cell disease in the United States: national and state estimates. Am J Hematol. 2010;85:77–8.
   PubMed Web of Science ®Google Scholar