Sickle Cell Disease

sickle cell disease or sickle cell anemia, inherited disorder of the blood in which the oxygen-carrying hemoglobin pigment in erythrocytes (red blood cells) is abnormal. This "hemoglobin-S" crystallizes in small capillaries, where the concentration of oxygen in the blood is low (but sufficient for normal hemoglobin), causing the red blood cells to assume distorted, sicklelike shapes. Linus Pauling discovered the chemical abnormality of the hemoglobin molecule that causes the erythrocyte sickling in 1949.

The sickled red blood cells tend to clog small blood vessels, depriving the tissues they serve of blood and oxygen. Painful "crises" result, with symptoms depending on the site affected (e.g., joint and abdominal pain or kidney damage). Strokes or seizures can occur if the brain is affected. Lung infections resulting from the patient's disinclination to take painful deep breaths are a frequent complication. In addition, the sickled erythrocytes are fragile and subject to rupture and destruction, leading to hemolytic anemia (reduction of oxygen-carrying hemoglobin caused by premature destruction of red blood cells) and such symptoms as fatigue, jaundice, and headaches.

Treatment

There is no cure for the disease, but advancements in treatment have improved median survival to 42 years for men and 48 years for women. Cerebral hemorrhage or shock is the usual cause of mortality in children. Recent studies have indicated that regular blood transfusions can prevent strokes in children. Anemia is treated with folic acid. Sickle cell crises may be treated with intravenous hydration, pain medication, antibiotics, oxygen, and transfusions. Hydroxyurea, formerly used as a cancer treatment, has been helpful to many adults with the disease, lessening the frequency and severity of crises. New drugs for reducing the severity of crises are being tested as well. One acts as a lubricant, allowing sickled cells to flow more easily through tiny vessels. The other helps to prevent tissue deprived of blood from dying during a crisis.

Incidence

The disease is confined mainly to blacks, especially those of W African descent, but it also occurs in persons of Mediterranean, Middle Eastern, and Indian origin. The mutation may at one time have had an advantageous effect; those afflicted with the abnormality have a higher survival rate in malaria-infested zones.

Under normal circumstances the disease occurs only in those patients who inherit the gene for the abnormal hemoglobin from both parents. This so-called homozygous form of the disease occurs in 1 in 400 African Americans. About 8% of African Americans have sickle cell trait; that is, they are heterozygotes, usually symptomless carriers who have inherited a normal hemoglobin gene from one parent and hemoglobin-S from the other. There are also intermediate forms of the disease that result when a gene for hemoglobin-S is inherited from one parent and a gene for any of several other abnormal kinds of hemoglobin is inherited from the other. Genetic screening (see genetic testing) is recommended for prospective parents at risk of passing on the disease. If both parents are carriers (i.e., have sickle cell trait), then each child has a one in four chance of having sickle cell disease.

The Columbia Encyclopedia, 6th ed. Copyright© 2015, The Columbia University Press.

Sickle Cell Disease: Selected full-text books and articles

The Politics of Sickle Cell and Thalassaemia By Elizabeth N. Anionwu; Karl Atkin Open University Press, 2001
Sickle Cell Sufferers Living Longer, Dying Less from Disease By Black Issues in Higher Education, Vol. 21, No. 7, May 2, 2004
Key Issues in Bioethics: A Guide for Teachers By Ralph Levinson; Michael J. Reiss RoutledgeFalmer, 2003
Librarian’s tip: Chap. 11 "Genetic Screening for Sickle Cell and Thalassaemia"
Social-Support, Self-Esteem and Depression as Determinants of Quality of Life among Sickle Cell Patients By Imhonde, H. O.; Ndom, R. J. E.; Ehon, A Ife Psychologia, Vol. 21, No. 1, March 2013
Pain and Sickle Cell Anemia By Resnik, David; Rehm, Marsha; Rich, Ben A The Hastings Center Report, Vol. 31, No. 3, May 2001
PEER-REVIEWED PERIODICAL
Peer-reviewed publications on Questia are publications containing articles which were subject to evaluation for accuracy and substance by professional peers of the article's author(s).
Mothers Raising Children with Sickle Cell Disease at the Intersection of Race, Gender, and Illness Stigma By Burnes, David P. R.; Antle, Beverley J.; Williams, Charmaine C.; Cook, Lisa Health and Social Work, Vol. 33, No. 3, August 2008
PEER-REVIEWED PERIODICAL
Peer-reviewed publications on Questia are publications containing articles which were subject to evaluation for accuracy and substance by professional peers of the article's author(s).
Human Biological Variation By James H. Mielke; Lyle W. Konigsberg; John H. Relethford Oxford University Press, 2006
Librarian’s tip: Chap. 6 "Human Hemoglobin Variants"
Handbook of Pediatric Psychology By Michael C. Roberts Guilford Press, 2005
Librarian’s tip: Chap. 19 "Diseases of the Blood: Sickle Cell Disease and Hemophilia"
Life Stories of Older Adults with Sickle Cell Disease By Jenerette, Coretta M.; Leak, Ashley N.; Sandelowski, Margarete ABNF Journal, Vol. 22, No. 3, Summer 2011
PEER-REVIEWED PERIODICAL
Peer-reviewed publications on Questia are publications containing articles which were subject to evaluation for accuracy and substance by professional peers of the article's author(s).
Handbook of Pain Syndromes: Biopsychosocial Perspectives By Andrew R. Block; Edwin F. Kremer; Ephrem Fernandez Lawrence Erlbaum Associates, 1999
Librarian’s tip: "Sickle Cell Disease" begins on p. 533
Quality of Care for Children and Adolescents: A Review of Selected Clinical Conditions and Quality Indicators By Elizabeth A. McGlynn; Cheryl I. Damberg; Eve A. Kerr; Mark A. Schuster Rand, 2000
Librarian’s tip: Chap. 17 "Sickle Cell Screening and Select Topics in Prevention of Complications"
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