Abstract
Sickle cell disease (SCD) is the most common single gene disorder in Afro-Americans, affecting approximately 1 in 375 persons of African ancestry. The frequency of sickle cell trait is about 8% in the US blacks. Sickle blood cells have an increased resistance to malaria. Protection from malaria helps maintain the high prevalence of the sickle gene in areas where malaria is endemic (Fixler and Styles 2002).
References
American Academy of Pediatrics. (2002). Health supervision for children with sickle cell disease. Pediatrics, 109, 526–535.
Anie, K. A., & Green, J. (2015). Psychological therapies for sickle cell disease and pain (Review). Cochrane Database of Systematic Reviews, 2015, 1–33.
Bender, M. A., & Hobbs, W. (2014). Sickle cell disease. GeneReviews, Updated 23 Oct 2014. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1377/
Bernaudin, F., Socie, G., Kuentz, M., et al. (2007). Long-term results of related myeloablative stem-cell transplantation to cure sickle cell disease. Blood, 110, 2749–2756.
Bolaños-Meade, J., & Brodsky, R. A. (2009). Blood and marrow transplantation for sickle cell disease: Overcoming barriers to success. Current Opinion in Oncology, 21, 158–161.
Bolaños-Meade, J., & Brodsky, R. A. (2014). Blood and marrow transplantation for sickle cell disease: Is less more? Blood Reviews, 28, 243–248.
Bookchin, R. M., & Lew, V. L. (1996). Pathophysiology of sickle cell anemia. Hematology/Oncology Clinics of North America, 10, 1241–1253.
Brawley, O. W., Comelius, L. J., Edwards, L. R., et al. (2008). National institutes of health consensus development conference statement: Hydroxyurea treatment for sickle cell disease. Annals of Internal Medicine, 148, 932–938.
Burnett, M. W., Bass, J. W., & Cook, B. A. (1998). Etiology of osteomyelitis complicating sickle cell disease. Pediatrics, 101, 296–297.
Charache, S., Scott, J. C., & Charache, P. (1979). “Acute chest syndrome” in adults with sickle cell anemia. Microbiology, treatment, and prevention. Archives of Internal Medicine, 139, 67–69.
Chen, H. (1992). Genetic testing & counseling for hemoglobinopathies. In The resource manual for hemoglobinopathies. An essential guide for health professionals (pp. 97–107). Columbus: Ohio Department of Health.
De Rycke, M., Van de Velde, H., Sermon, K., et al. (2001). Preimplantation genetic diagnosis for sickle-cell anemia and for beta-thalassemia. Prenatal Diagnosis, 21, 214–222.
Dobson, S. R., Holden, K. R., Nietert, P. J., et al. (2002). Moyamoya syndrome in childhood sickle cell disease: A predictive factor for recurrent cerebrovascular events. Blood, 99, 3144–3150.
Driscoll, M. C. (2007). Sickle cell disease. Pediatrics in Review, 28, 259–268.
Eckman, J. R. (1996). Leg ulcers in sickle cell disease. Hematology/Oncology Clinics of North America, 10, 1333–1344.
El-Toukhy, T., Bickerstaff, H., & Meller, S. (2010). Preimplantation genetic diagnosis for haematologic conditions. Current Opinion in Pediatrics, 22, 28–34.
Fixler, J., & Styles, L. (2002). Sickle cell disease. Pediatric Clinics of North America, 49, 1193–1210.
Fucharoen, S., & Winichagoon, P. (2000). Clinical and hematologic aspects of hemoglobin E b-thalassemia. Current Opinion in Hematology, 7, 106–112.
Gargiulo, R., Pandya, M., Seba, A., et al. (2014). Sickle cell nephropathy. Disease-a-Month, 60, 494–499.
Gladwin, M. T., Sachdev, V., Jison, M. L., et al. (2004). Pulmonary hypertension as a risk factor for death in patients with sickle cell disease. New England Journal of Medicine, 350, 886–895.
Kanter, J., & Kruse-Jarres, R. (2013). Management of sickle cell disease from childhood through adulthood. Blood Reviews, 27, 279–287.
Khan, S. A., Damanhouri, G., Ali, A., et al. (2016). Precipitating factors and targeted therapies in combating the perils of sickle cell disease – A special nutritional consideration. Nutrition & Metabolism, 13, 1–12.
Kuliev, A., Rechitsky, S., Verlinsky, O., et al. (1998). Preimplantation diagnosis of thalassemias. Journal of Assisted Reproduction and Genetics, 15, 219–225.
Kuliev, A., Rechitsky, S., Verlinsky, O., et al. (2005). Preimplantation diagnosis and HLA typing for haemoglobin disorders. Reproductive Biomedicine Online, 11, 362–370.
Lane, P. A. (1996). Sickle cell disease. Pediatric Clinics of North America, 43, 639–664.
Madani, G., Papadopoulou, A. M., Holloway, B., et al. (2007). The radiological manifestations of sickle cell disease. Clinical Radiology, 62, 528–538.
Masiello, D., Heeney, M. M., Adewoye, A. H., et al. (2007). Hemoglobin SE disease – A concise review. American Journal of Hematology, 82, 643–649.
Molitierno, J. A., Jr. (2003). Carson CC III: Urologic manifestations of hematologic disease: Sickle cell, leukemia, and thromboembolic disease. Urologic Clinics of North America, 30, 49–61.
Nath, K. A., & Hebbel, R. P. (2015). Sickle cell disease: renal manifestations and mechanisms. Nature Review. Nephrology, 11, 161–171.
Olowoyeye, A., & Okwundu, C. I. (2015). Gene therapy for sickle cell disease (Review). Cochrane Database of Systematic Reviews, 2014, 1–9.
Orkin, S. H., Kazazian, H. H., Jr., Antonarakis, S. E., et al. (1982). Abnormal RNA processing due to the exon mutation of βE-globin gene. Nature, 300, 768–769.
Potoka, K. P., & Gladwin, M. T. (2015). Vasculopathy and pulmonary hypertension in sickle cell disease. American Journal of Physiology. Lung Cellular and Molecular Physiology, 308, L314–L324.
Powars, D. R. (1975). Natural history of sickle cell disease: The first ten years. Seminars in Hematology, 12, 267.
Powars, D. R., & Johnson, C. S. (1996). Priapism. Hematology/Oncology Clinics of North America, 10, 1363–1371.
Quinn, C. T., & Buchanan, G. R. (1999). The acute chest syndrome of sickle cell disease. Journal of Pediatrics, 135, 416–422.
Rao, S. P., Miller, S. T., & Cohen, B. J. (1992). Transient aplastic crisis in patients with sickle cell disease: B19 parvovirus studies during a 7-year period. Archives of Disease in Childhood, 146, 1328.
Robinson, T. M., & Fuchs, E. J. (2016). Allogeneic stem cell transplantation for sickle cell disease. Current Opinion in Hematology, 23, 1–6.
Saborio, P., & Scheinman, J. I. (1999). Sickle cell nephropathy. Journal of the American Society of Nephrology, 10, 187–192.
Smith, J. A. (1996). Bone disorders in sickle cell disease. Hematology/Oncology Clinics of North America, 10, 1345–1356.
Steen, R. G., Emudianughe, T., Hankins, G. M., et al. (2003). Brain imaging findings in pediatric patients with sickle cell disease. Radiology, 228, 216–225.
Steven, A., Raghavan, P., Rath, T. J., et al. (2016). Neurologic and head and neck manifestations of sickle cell disease. Hematology/Oncology Clinics of North America, 30, 779–798.
Sun, P. M., Wilburn, W., Raynor, A. D., et al. (2001). Sickle cell disease in pregnancy: Twenty years of experience at Grady memorial hospital, Atlanta, Georgia. American Journal of Obstetrics and Gynecology, 184, 1127–1130.
Talano, J.-A., & Cairo, M. S. (2015). Hematopoietic stem cell transplantation for sickle cell disease: State of the science. European Journal of Haematology, 94, 391–399.
Vermylen, C., Cornu, G., Ferster, A., et al. (1998). Haematopoietic stem cell transplantation for sickle cell anaemia: The first 50 patients transplanted in Belgium. Bone Marrow Transplantation, 22, 1–6.
Vichinsky, E. P. (1991). Comprehensive care in sickle cell disease: Its impact on morbidity and mortality. Seminars in Hematology, 28, 220–226.
Vichinsky, E. P. (1997). Hydroxyurea in children: Present and future. Seminars in Hematology, 34, 22–29.
Vichinsky, E. (2002). New therapies in sickle cell disease. Lancet, 360, 629–631.
Vichinsky, E., Hurst, D., Earles, A., et al. (1988). Newborn screening for sickle cell disease: Effect on mortality. Pediatrics, 81, 749–755.
Walters, M. C. (2015). Update of hematopoietic cell transplantation for sickle cell disease. Current Opinion in Hematology, 22, 227–233.
Walters, M. C., Patience, M., Leisenring, W., et al. (1996). Bone marrow transplantation for sickle cell disease. The New England Journal of Medicine, 335, 426–428.
Walters, M. C., Storb, R., Patience, M., et al. (2000). Impact of bone marrow transplantation for symptomatic sickle cell disease: An interim report. Multicenter investigation of bone marrow transplantation for sickle cell disease. Blood, 95, 1918–1924.
Wethers, D. L. (2000a). Sickle cell disease in childhood: Part I. Laboratory diagnosis, pathophysiology and health maintenance. American Family Physician, 62, 1013–1020, 1027–1028.
Wethers, D. L. (2000b). Sickle cell disease in childhood: Part II. Diagnosis and treatment of major complications and recent advances in treatment. American Family Physician, 62, 1309–1314.
Yawn, B. P., Buchanan, G. R., & Afenyi-Annan, A. N. (2014). Management of sickle cell disease: Summary of the 2014 evidence-based report by expert panel members. JAMA, 312, 1033–1048.
Zhang, X., Li, C., & Li, Q. (2016). Magnetic resonance imaging in pediatric sickle cell anemia (Review). Experimental and Therapeutic Medicine, 12, 555–558.
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Chen, H. (2017). Sickle Cell Disease. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2401-1_215
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DOI: https://doi.org/10.1007/978-1-4939-2401-1_215
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