Article
Hemoglobin Jamaica plain--a sickling hemoglobin with reduced oxygen affinity.
The New England journal of medicine - 7 Oct 2004
Geva Alon, Clark Jennifer J, Zhang Yuxun, Popowicz Anthony, Manning James M, Neufeld Ellis J
Abstract excerpt
A baby girl presented with symptomatic sickle cell disease exacerbated by mild hypoxemia, despite a newborn-screening diagnosis of sickle cell trait. DNA sequencing of the beta globin gene revealed that her maternal beta globin allele was normal. Her paternal allele had not only the expected sickle-trait mutation, betaGlu6Val, but also a second, charge-neutral mutation, betaLeu68Phe. Analysis of the patient's...
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