Sickle Cell Anemia
Sickle cell anemia is a genetic disease caused by a single recessive mutation in hemoglobin. Individuals who inherit this recessive gene from both parents exhibit symptoms, while those who inherit only one copy of the gene typically do not exhibit symptoms and are resistant to malaria. About 1 in 12 African Americans worldwide carry the trait, and about 1 in 400 have the disease. Sickling of red blood cells causes them to clump together and impedes the passage of red blood cells in the circulatory system. Painful vaso-occlusive crises are influenced by the frequency of other globin mutations, as well as psychological stress. Thus, many individuals have complications from the disease, whereas others are relatively healthy. The physical signs include slow growth, lethargy, jaundice, anemia, poor feeding, enlargement of liver and spleen, and delay in sexual maturation. Psychosocial symptoms include embarrassment, poor self-esteem, depression, and fear. There is no cure, but there have been significant advances in life expectancy and treatment.
See also: GENOTYPE
Conyard, Shirley, Muthuswamy Krishnamurthy, and Harvey Dosik."Psychological Aspects of Sickle-Cell Anemia in Adolescents." Health and Social Work vol. 5 (1980):20-26.
DeRoin, Dee Ann. "Sickle Cell Anemia." Written for Clinical Reference Systems, 1998, on NBCi [web site]. Available from http://br.nbci.com/lmoid/resource/0,566,-2770,00.html; INTERNET.
National Library of Medicine. "Sickle Cell Disease in Newborns and Infants: A Guide for Parents." In the Wellness Web [web site], 2001. Available from http://wellweb.com/index/qsickle.htm; INTERNET.
Kathryn S. Lemery
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