Abstract
A patient with chronic hemolytic anemia and G6PD deficiency was noted to be severely jaundiced and to have a high serum ferritin level. Analysis of his DNA revealed only heterozygosity for the c.187 C-->G (H63D) mutation of HFE, but showed that he was homozygous for the UDP glucuronosyltransferase promoter mutation of Gilbert's disease and that he had a previously undescribed mutation of G6PD, c.832 T-->C (Ser278Pro). The new variant was named G6PD La Jolla.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Adult
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Anemia, Hemolytic, Congenital / complications
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Anemia, Hemolytic, Congenital / genetics
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DNA Mutational Analysis
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Genetic Variation
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Gilbert Disease / complications*
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Gilbert Disease / diagnosis
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Gilbert Disease / genetics
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Glucosephosphate Dehydrogenase / genetics*
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Glucosephosphate Dehydrogenase Deficiency / complications
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Glucosephosphate Dehydrogenase Deficiency / genetics
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Glucuronosyltransferase / genetics
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Hemochromatosis Protein
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Histocompatibility Antigens Class I / genetics
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Humans
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Jaundice / etiology*
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Jaundice / genetics
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Male
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Membrane Proteins / genetics
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Mutation
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Promoter Regions, Genetic / genetics
Substances
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HFE protein, human
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Hemochromatosis Protein
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Histocompatibility Antigens Class I
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Membrane Proteins
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Glucosephosphate Dehydrogenase
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glucose-6-phosphate dehydrogenase La Jolla
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UGT1A1 enzyme
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Glucuronosyltransferase