Sickle Cell Disease
Publication: Annals of Internal Medicine
Volume 155, Number 5
Submit a Comment
Contributors must reveal any conflict of interest. Comments are moderated. Please see our information for authorsregarding comments on an Annals publication.
Sickle cell disease is a Mendelian genetic disorder caused by several common genotypes (see the Box: Common Genotypes of Sickle Cell Disease). Sickle cell trait is clinically benign and should not be considered a disease.
HbA is the major normal adult hemoglobin.
•
Sickle cell anemia: homozygosity for the HbS or sickle hemoglobin gene
•
HbSC disease: compound heterozygosity for HbS and HbC genes
•
HbS–β-thalassemia: compound heterozygosity for HbS and a β0- or β+-thalassemia gene
•
HbSO Arabia: compound heterozygosity for HbS and HbO Arabia
•
HbSD Los Angeles (Punjab): compound heterozygosity for HbS and HbD
•
HbSE: compound heterozygosity for HbS and …
Get full access to this article
View all available purchase options and get full access to this article.
Supplemental Material
References
1.
Halasa NB, Shankar SM, Talbot TR, et al. Incidence of invasive pneumococcal disease among individuals with sickle cell disease before and after the introduction of the pneumococcal conjugate vaccine. Clin Infect Dis. 2007;44:1428-33. [ 17479937]
2.
Adams R, McKie V, Nichols F, et al. The use of transcranial ultrasonography to predict stroke in sickle cell disease. N Engl J Med. 1992;326:605-10. [ 1734251]
3.
Adams RJ, McKie VC, Hsu L, et al. 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. [ 9647873]
4.
Strouse JJ, Jordan LC, Lanzkron S, Casella JF. The excess burden of stroke in hospitalized adults with sickle cell disease. Am J Hematol. 2009;84:548-52. [ 19623672]
5.
Parent F, Bachir D, Inamo J, Lionnet F, Driss F, Loko G, et al. A hemodynamic study of pulmonary hypertension in sickle cell disease. N Engl J Med. 2011;365:44-53.
6.
Steinberg MH, Nagel RL. Hemoglobin SC Disease and Hemoglobin C Disorders. In: Steinberg MH, Forget BG, Higgs DR, Weatherall DJ, eds. Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management. 2nd ed. Cambridge: Cambridge University Press; 2009:525-48
7.
Kark JA, Ward FT. Exercise and hemoglobin S. Semin Hematol. 1994;31:181-225. [ 7973777]
8.
Kark JA, Posey DM, Schumacher HR, Ruehle CJ. Sickle-cell trait as a risk factor for sudden death in physical training. N Engl J Med. 1987;317:781-7. [ 3627196]
9.
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;289:1645-51. [ 12672732]
10.
Steinberg MH, McCarthy WF, Castro O, et al. The risks and benefits of long-term use of hydroxyurea in sickle cell anemia: A 17.5 year follow-up. Am J Hematol. 2010;85:403-8. [ 20513116]
11.
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. [ 7715639]
12.
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;115:2354-63. [ 19903897]
13.
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. [ 18458271]
14.
Hankins JS, Ware RE, Rogers ZR, et al. Long-term hydroxyurea therapy for infants with sickle cell anemia: the HUSOFT extension study. Blood. 2005;106:2269-75. [ 16172253]
15.
Wang WC, Ware RE, Miller ST, et al. Hydroxycarbamide in very young children with sickle-cell anaemia: a multicentre, randomised, controlled trial (BABY HUG). Lancet. 2011;377:1663-72. [ 21571150]
16.
Ferster A, Tahriri P, Vermylen C, et al. Five years of experience with hydroxyurea in children and young adults with sickle cell disease. Blood. 2001;97:3628-32. [ 11369660]
17.
Vichinsky EP, Haberkern CM, Neumayr L, et al. A comparison of conservative and aggressive transfusion regimens in the perioperative management of sickle cell disease. The Preoperative Transfusion in Sickle Cell Disease Study Group. N Engl J Med. 1995;333:206-13. [ 7791837]
18.
Adams RJ, Brambilla D; Optimizing Primary Stroke Prevention in Sickle Cell Anemia (STOP 2) Trial Investigators. Discontinuing prophylactic transfusions used to prevent stroke in sickle cell disease. N Engl J Med. 2005;353:2769-78. [ 16382063]
19.
Hulbert ML, Scothorn DJ, Panepinto JA, et al. Exchange blood transfusion compared with simple transfusion for first overt stroke is associated with a lower risk of subsequent stroke: a retrospective cohort study of 137 children with sickle cell anemia. J Pediatr. 2006;149:710-2. [ 17095350]
20.
Atkins RC, Walters MC. Haematopoietic cell transplantation in the treatment of sickle cell disease. Expert Opin Biol Ther. 2003;3:1215-24. [ 14640947]
21.
Hsieh MM, Kang EM, Fitzhugh CD, et al. Allogeneic hematopoietic stem-cell transplantation for sickle cell disease. N Engl J Med. 2009;361:2309-17. [ 20007560]
22.
Quinn CT, Rogers ZR, McCavit TL, Buchanan GR. Improved survival of children and adolescents with sickle cell disease. Blood. 2010;115:3447-52. [ 20194891]
23.
Vichinsky EP, Neumayr LD, Gold JI, et al; Neuropsychological Dysfunction and Neuroimaging Adult Sickle Cell Anemia Study Group. Neuropsychological dysfunction and neuroimaging abnormalities in neurologically intact adults with sickle cell anemia. JAMA. 2010;303:1823-31. [ 20460621]
24.
Ballas SK. Pain management of sickle cell disease. Hematol Oncol Clin North Am. 2005;19:785-802, v. [ 16214644]
25.
Smith WR, Penberthy LT, Bovbjerg VE, et al. Daily assessment of pain in adults with sickle cell disease. Ann Intern Med. 2008;148:94-101. [ 18195334]
26.
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. [ 10861320]
27.
Vichinsky E, Williams R, Das M, et al. Pulmonary fat embolism: a distinct cause of severe acute chest syndrome in sickle cell anemia. Blood. 1994;83:3107-12. [ 8193347]
28.
Gladwin MT, Sachdev V, Jison ML, et al. Pulmonary hypertension as a risk factor for death in patients with sickle cell disease. N Engl J Med. 2004;350:886-95. [ 14985486]
29.
Boyd JH, Macklin EA, Strunk RC, DeBaun MR. Asthma is associated with acute chest syndrome and pain in children with sickle cell anemia. Blood. 2006;108:2923-7. [ 16690969]
30.
Taylor JG 6th, Nolan VG, Mendelsohn L, Kato GJ, Gladwin MT, Steinberg MH. Chronic hyper-hemolysis in sickle cell anemia: association of vascular complications and mortality with less frequent vasoocclusive pain. PLoS One. 2008;3:e2095. [ 18461136]
31.
Rogers ZR. Priapism in sickle cell disease. Hematol Oncol Clin North Am. 2005;19:917-28, viii. [ 16214652]
32.
Burnett AL, Bivalacqua TJ, Champion HC, Musicki B. Long-term oral phosphodiesterase 5 inhibitor therapy alleviates recurrent priapism. Urology. 2006;67:1043-8. [ 16698365]
33.
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. [ 20460621]
34.
Quinn CT, Rogers ZR, McCavit TL, Buchanan GR. Improved survival of children and adolescents with sickle cell disease. Blood. 2010;115:3447-52. [ 20194891]
35.
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. [ 7993409]
Information & Authors
Information
Published In
Annals of Internal Medicine
Volume 155 • Number 5 • 6 September 2011
Pages: ITC3-1
Editors: Deborah Cotton, MD, MPH, Darren Taichman, MD, PhD, and Sankey Williams, MD
History
Published online: 6 September 2011
Published in issue: 6 September 2011
Keywords
Copyright
© 2011 American College of Physicians.
Authors
Metrics & Citations
Metrics
Citations
If you have the appropriate software installed, you can download article citation data to the citation manager of your choice. For an editable text file, please select Medlars format which will download as a .txt file. Simply select your manager software from the list below and click Download.
For more information or tips please see 'Downloading to a citation manager' in the Help menu.
Download article citation data for:
Sickle Cell Disease. Ann Intern Med.2011;155:ITC3-1. [Epub 6 September 2011]. doi:10.7326/0003-4819-155-5-201109060-01003
Sickle Cell Disease. Ann Intern Med.2011;155:ITC3-1. [Epub 6 September 2011]. doi:10.7326/0003-4819-155-5-201109060-01003
View More
Login Options:
Purchase
You will be redirected to acponline.org to sign-in to Annals to complete your purchase.
Access to EPUBs and PDFs for FREE Annals content requires users to be registered and logged in. A subscription is not required. You can create a free account below or from the following link. You will be redirected to acponline.org to create an account that will provide access to Annals. If you are accessing the Free Annals content via your institution's access, registration is not required.
Create your Free Account
You will be redirected to acponline.org to create an account that will provide access to Annals.
Comments
0 Comments