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Severe Jaundice in a Patient with a Previously Undescribed Glucose-6-phosphate Dehydrogenase (G6PD) Mutation and Gilbert Syndrome

2002; Elsevier BV; Volume: 28; Issue: 2 Linguagem: Inglês

10.1006/bcmd.2002.0491

1096-0961

Ernest Beutler, Terri Gelbart, William Miller,

Erythrocyte Function and Pathophysiology

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.