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Orientador(es)
Resumo(s)
The authors describe a 5-year-old Caucasian girl, referred to their hospital for evaluation of an unconjugated hyperbilirubinemia (57.9 μmol/L) detected from blood analysis during an episode of
fever. The molecular analysis of the TATA-box region of the UGT1A1 gene revealed that the patient was a compound heterozygote for two insertions, one TA and the other TATA [(TA)7 /(TA)8 ]. This is the first case of (TA)8 allele found in a Portuguese Caucasian patient and the third found in the
literature.
Descrição
Palavras-chave
UGT1A1 Gilbert syndrome Bilirubin Hyperbilirubinemia
Contexto Educativo
Citação
Coelho, Henrique; Costa, Elísio; Branca, Rosa; Santos, Rosário; Barbot, José (2004). A new case of (TA)8 allele in the UGT1A1 gene promoter in a caucasian girl with Gilbert' syndrome. Pediatric Hematology and Oncology. ISSN 0888-0018. 21:5, p. 371–374