Abstract
Standard electrophoretic methods for the diagnosis of hemoglobinopathies are confounded in individuals chronically transfused. We present the accurate diagnosis of sickle cell disease in two such transfused patients by the application of polymerase chain reaction technology to analyze patient's hemoglobin beta-chain genes directly.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Anemia, Sickle Cell / blood
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Anemia, Sickle Cell / diagnosis*
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Anemia, Sickle Cell / genetics
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Base Sequence
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Child
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Child, Preschool
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Confounding Factors, Epidemiologic
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DNA / analysis
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Female
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Genome, Human
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Hemoglobins / genetics
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Humans
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Kidney Transplantation
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Male
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Methylmalonic Acid / blood
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Molecular Sequence Data
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Polymerase Chain Reaction
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Time Factors
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Transfusion Reaction*
Substances
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Hemoglobins
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Methylmalonic Acid
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DNA