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Section 3, Part C - Hemoglobinopathies

from Section 3 - Specific Forms of Anemia

Published online by Cambridge University Press:  18 April 2018

Edited by
Edward J. Benz, Jr. ,
Nancy Berliner  and
Fred J. Schiffman
Edward J. Benz, Jr.
Affiliation:
Dana Farber Cancer Institute
Nancy Berliner
Affiliation:
Brigham and Women's Hospital, Boston
Fred J. Schiffman
Affiliation:
Children's Hospital, Boston
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Anemia
Pathophysiology, Diagnosis, and Management
 , pp. 66 - 83
Publisher: Cambridge University Press
Print publication year: 2017

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References

References

Hassell, KL. Population estimates of sickle cell disease in the U.S. American Journal of Preventive Medicine. 2010;38(4 Suppl):S512–521.CrossRefGoogle ScholarPubMed
Hofrichter, J. Kinetics of sickle hemoglobin polymerization. III. Nucleation rates determined from stochastic fluctuations in polymerization progress curves. Journal of Molecular Biology. 1986;189(3):553–571.CrossRefGoogle ScholarPubMed
Steinberg, MH. Genetic etiologies for phenotypic diversity in sickle cell anemia. The Scientific World Journal. 2009;9:46–67.CrossRefGoogle ScholarPubMed
Ballas, SK. Pathophysiology and principles of management of the many faces of the acute vaso-occlusive crisis in patients with sickle cell disease. European Journal of Haematology. 2014.Google Scholar
Ballas, SK, Gupta, K, Adams-Graves, P. Sickle cell pain: a critical reappraisal. Blood. 2012;120(18):3647–3656.Google Scholar
Latremoliere, A, Woolf, CJ. Central sensitization: a generator of pain hypersensitivity by central neural plasticity. The Journal of Pain: Official Journal of the American Pain Society. 2009;10(9):895–926.CrossRefGoogle ScholarPubMed
Woolf, CJ. Central sensitization: uncovering the relation between pain and plasticity. Anesthesiology. 2007;106(4):864–867.CrossRefGoogle ScholarPubMed
Kohli, DR, Li, Y, Khasabov, SG, Gupta, P, Kehl, LJ, Ericson, ME, et al. Pain-related behaviors and neurochemical alterations in mice expressing sickle hemoglobin: modulation by cannabinoids. Blood. 2010;116(3):456–465.CrossRefGoogle ScholarPubMed
Davies, SC, Luce, PJ, Win, AA, Riordan, JF, Brozovic, M. Acute chest syndrome in sickle-cell disease. Lancet. 1984;1(8367):36–38.Google Scholar
Vichinsky, EP, Styles, LA, Colangelo, LH, Wright, EC, Castro, O, Nickerson, B. Acute chest syndrome in sickle cell disease: clinical presentation and course. Cooperative study of sickle cell disease. Blood. 1997;89(5):1787–1792.Google Scholar
Gladwin, MT, Sachdev, V, Jison, ML, Shizukuda, Y, Plehn, JF, Minter, K, et al. Pulmonary hypertension as a risk factor for death in patients with sickle cell disease. The New England Journal of Medicine. 2004;350(9):886–895.Google Scholar
Ataga, KI, Moore, CG, Jones, S, Olajide, O, Strayhorn, D, Hinderliter, A, et al. Pulmonary hypertension in patients with sickle cell disease: a longitudinal study. British Journal of Haematology. 2006;134(1):109–115.Google Scholar
Fonseca, GH, Souza, R, Salemi, VM, Jardim, CV, Gualandro, SF. Pulmonary hypertension diagnosed by right heart catheterisation in sickle cell disease. The European Respiratory Journal. 2012;39(1):112–118.CrossRefGoogle ScholarPubMed
Kato, GJ, Martyr, S, Blackwelder, WC, Nichols, JS, Coles, WA, Hunter, LA, et al. Levels of soluble endothelium-derived adhesion molecules in patients with sickle cell disease are associated with pulmonary hypertension, organ dysfunction, and mortality. British Journal of Haematology. 2005;130(6):943–953.CrossRefGoogle ScholarPubMed
Moser, FG, Miller, ST, Bello, JA, Pegelow, CH, Zimmerman, RA, Wang, WC, et al. The spectrum of brain MR abnormalities in sickle-cell disease: a report from the Cooperative Study of Sickle Cell Disease. AJNR American Journal of Neuroradiology. 1996;17(5):965–972.Google ScholarPubMed
Pegelow, CH, Macklin, EA, Moser, FG, Wang, WC, Bello, JA, Miller, ST, et al. Longitudinal changes in brain magnetic resonance imaging findings in children with sickle cell disease. Blood. 2002;99(8):3014–3018.Google Scholar
Berkelhammer, LD, Williamson, AL, Sanford, SD, Dirksen, CL, Sharp, WG, Margulies, AS, et al. Neurocognitive sequelae of pediatric sickle cell disease: a review of the literature. Child Neuropsychology: A Journal on Normal and Abnormal Development in Childhood and Adolescence. 2007;13(2):120–131.CrossRefGoogle ScholarPubMed
Kral, MC, Brown, RT, Connelly, M, Cure, JK, Besenski, N, Jackson, SM, et al. Radiographic predictors of neurocognitive functioning in pediatric sickle cell disease. Journal of Child Neurology. 2006;21(1):37–44.Google Scholar
Steen, RG, Xiong, X, Mulhern, RK, Langston, JW, Wang, WC. Subtle brain abnormalities in children with sickle cell disease: relationship to blood hematocrit. Annals of Neurology. 1999;45(3):279–286.3.0.CO;2-7>CrossRefGoogle ScholarPubMed
Steen, RG, Miles, MA, Helton, KJ, Strawn, S, Wang, W, Xiong, X, et al. Cognitive impairment in children with hemoglobin SS sickle cell disease: relationship to MR imaging findings and hematocrit. AJNR American Journal of Neuroradiology. 2003;24(3):382–389.Google Scholar
Iampietro, M, Giovannetti, T, Tarazi, R. Hypoxia and inflammation in children with sickle cell disease: implications for hippocampal functioning and episodic memory. Neuropsychology Review. 2014;24(2):252–265.CrossRefGoogle ScholarPubMed
Ohene-Frempong, K, Weiner, SJ, Sleeper, LA, Miller, ST, Embury, S, Moohr, JW, et al. Cerebrovascular accidents in sickle cell disease: rates and risk factors. Blood. 1998;91(1):288–294.Google Scholar
Lebensburger, JD, Miller, ST, Howard, TH, Casella, JF, Brown, RC, Lu, M, et al. Influence of severity of anemia on clinical findings in infants with sickle cell anemia: analyses from the BABY HUG study. Pediatric Blood & Cancer. 2012;59(4):675–678.Google Scholar
Goldberg, MF. Natural history of untreated proliferative sickle retinopathy. Archives of Ophthalmology. 1971;85(4):428–437.Google Scholar
Pegelow, CH, Colangelo, L, Steinberg, M, Wright, EC, Smith, J, Phillips, G, et al. Natural history of blood pressure in sickle cell disease: risks for stroke and death associated with relative hypertension in sickle cell anemia. The American Journal of Medicine. 1997;102(2):171–177.CrossRefGoogle ScholarPubMed
Sarnaik, S, Slovis, TL, Corbett, DP, Emami, A, Whitten, CF. Incidence of cholelithiasis in sickle cell anemia using the ultrasonic gray-scale technique. The Journal of Pediatrics. 1980;96(6):1005–1008.CrossRefGoogle ScholarPubMed
Emond, AM, Holman, R, Hayes, RJ, Serjeant, GR. Priapism and impotence in homozygous sickle cell disease. Archives of Internal Medicine. 1980;140(11):1434–1437.Google Scholar
Marouf, R, Gupta, R, Haider, MZ, Al-Wazzan, H, Adekile, AD. Avascular necrosis of the femoral head in adult Kuwaiti sickle cell disease patients. Acta Haematologica 2003;110(1):11–15.CrossRefGoogle ScholarPubMed
Charache, S, Terrin, ML, Moore, RD, Dover, GJ, Barton, FB, Eckert, SV, 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. The New England Journal of Medicine. 1995;332(20):1317–1322.CrossRefGoogle ScholarPubMed
Vichinsky, EP, Johnson, R, Lubin, BH. Multidisciplinary approach to pain management in sickle cell disease. The American Journal of Pediatric Hematology/Oncology. 1982;4(3):328–333.Google ScholarPubMed
Hagmeyer, KO, Mauro, LS, Mauro, VF. Meperidine-related seizures associated with patient-controlled analgesia pumps. The Annals of Pharmacotherapy. 1993;27(1):29–32.CrossRefGoogle ScholarPubMed
The Management of Sickle Cell Disease. In: USDoHaH, ed. Services. 4th edition. National Institutes of Health, Bethesda, MD; 2004:59–74.Google Scholar
Inturrisi, CE. Pharmacology of methadone and its isomers. Minerva Anestesiologica. 2005;71(7–8):435–437.Google ScholarPubMed
McCance-Katz, EF. (R)-methadone versus racemic methadone: what is best for patient care? Addiction. 2011;106(4):687–688.Google Scholar
Uprety, D, Baber, A, Foy, M. Ketamine infusion for sickle cell pain crisis refractory to opioids: a case report and review of literature. Annals of Hematology. 2014;93(5):769–771.Google Scholar
Tawfic, QA, Faris, AS, Kausalya, R. The role of a low-dose ketamine-midazolam regimen in the management of severe painful crisis in patients with sickle cell disease. Journal of Pain and Symptom Management. 2014;47(2):334–340.Google Scholar
Aygun, B, McMurray, MA, Schultz, WH, Kwiatkowski, JL, Hilliard, L, Alvarez, O, et al. Chronic transfusion practice for children with sickle cell anaemia and stroke. British Journal of haematology. 2009;145(4):524–528.Google Scholar
Enninful-Eghan, H, Moore, RH, Ichord, R, Smith-Whitley, K, Kwiatkowski, JL. Transcranial Doppler ultrasonography and prophylactic transfusion program is effective in preventing overt stroke in children with sickle cell disease. The Journal of Pediatrics. 2010;157(3):479–484.Google Scholar
Ancel, D, Amiot, X, Chaslin-Ferbus, D, Hagege, I, Garioud, A, Girot, R, et al. Treatment of chronic hepatitis C in sickle cell disease and thalassaemic patients with interferon and ribavirin. European Journal of Gastroenterology & Hepatology. 2009;21(7):726–729.CrossRefGoogle ScholarPubMed
Siegel, JF, Rich, MA, Brock, WA. Association of sickle cell disease, priapism, exchange transfusion and neurological events: ASPEN syndrome. The Journal of Urology. 1993;150(5 Pt 1):1480–1482.Google Scholar
Roy, NB et al. Interventions for chronic kidney disease in people with sickle cell disease. Cochrane Database Syst Rev. 2017, https://www.ncbi.nlm.nih.gov/pubmed/28672087.Google Scholar
Wang, WC, Ware, RE, Miller, ST, Iyer, RV, Casella, JF, Minniti, CP, et al. Hydroxycarbamide in very young children with sickle-cell anaemia: a multicentre, randomised, controlled trial (BABY HUG). Lancet. 2011;377(9778):1663–1672.Google Scholar
Neumayr, LD, Aguilar, C, Earles, AN, Jergesen, HE, Haberkern, CM, Kammen, BF, et al. Physical therapy alone compared with core decompression and physical therapy for femoral head osteonecrosis in sickle cell disease. Results of a multicenter study at a mean of three years after treatment. Journal of Bone and Joint Surgery. 2006;88(12):2573–2582.CrossRefGoogle Scholar
Platt, OS, Brambilla, DJ, Rosse, WF, Milner, PF, Castro, O, Steinberg, MH, et al. Mortality in sickle cell disease. Life expectancy and risk factors for early death. The New England Journal of Medicine. 1994;330(23):1639–1644.Google Scholar

Further Reading

Bunn, HF. Sickle hemoglobin and other hemoglobin mutants. In: Stamatoyannopoulos, G, Nienhuis, AW, Majerus, PO, et al., eds. The Molecular Basis of Blood Disease. 2nd ed. Philadelphia: WB Saunders; 1993: __.Google Scholar
Bunn, HF, Forget, BG. Hemoglobin: Molecular, Cellular and Clinical Aspects. Philadelphia: WB Saunders; 1985.Google Scholar
Cortazzo, JA, Lichtman, AD. Methemoglobinemia: A review and recommendations for management. J Cardiothorac Vasc Anesth. 2014; 28:1043.Google Scholar
Dickerson, RE, Geis, I. Hemoglobin: Structure, Function, Evolution, and Pathology. Menlo Park, CA: Benjamin-Cummings; 1983.Google Scholar
Ho, C, ed. Hemoglobin and Oxygen Binding. New York: Elsevier Biomedical; 1982.Google Scholar
Perutz, MF. Molecular anatomy, physiology, and pathology of hemoglobin. In: Stamatoyannopoulos, G, Nienhuis, AW, Leder, P, et al., eds. The Molecular Basis of Blood Diseases. Philadelphia: WB Saunders; 1987:127.Google Scholar
Smith, RP, Olson, MV. Drug-induced methemoglobinemia. Semin Hematol. 1973; 10:253.Google Scholar
Wright, RO, Lewander, WJ, Woolf, AD. Methemoglobinemia: Etiology, pharmacology, and clinical management. Ann Emerg Med. 1999; 34:646.Google Scholar

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