PKU - Sickle-Cell Anemia Sickle-cell anemia is an...

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PKU – Phenylketonuria PKU is a recessive genetic disease in which the person does not have the ability to break down the amino acid phenylalanine. The level of phenylalanine in the persons blood builds up and interferes with the development of the nervous system. Children that are raised on a phenylalanine-restricted diet may develop normally but children that are not raised on a special diet will become severely mentally retarded. The diet should be followed for life because high phenylalanine levels affect cognitive functioning. Genetic screening is the routine testing of individuals for specific genotypes. Newborns in U.S. hospitals are screened for PKU. PKU women must resume the diet several months before conception The incidence of PKU in the United States is 1 in 13,500 to 1 in 19,000.
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Unformatted text preview: Sickle-Cell Anemia Sickle-cell anemia is an abnormality of hemoglobin, the molecule that carries oxygen in our blood. Hemoglobin is contained within red blood cells. When the oxygen concentration in the hemoglobin molecules becomes low, the molecules stick together forming long rods that distort the cell (picture below). The cells break down or clog blood vessels causing pain, poor circulation, jaundice, anemia, internal hemorrhaging, low resistance, and damage to internal organs. Death usually occurs before age 50. Heterozygotes (carriers) are not affected with anemia and are resistant to malaria. Eight to ten percent of African Americans carry the allele (have sickle-cell trait)....
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