| Persistent jaundice in an infant with homozygous beta thalassemia due to co-inherited Crigler-Najjar syndrome. | |
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MedLine Citation:
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PMID: 19953640 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Clinically apparent jaundice is unusual in patients with beta-thalassemia major. Co-inheritance of Gilbert syndrome has been reported to cause hyperbilirubinemia in these subjects. Crigler-Najjar syndrome is another rare disorder of bilirubin metabolism caused by mutation in the gene coding the enzyme UGT1A1. We report a patient of beta-thalassemia major who presented with persistent jaundice due to co-inherited Crigler-Najjar syndrome type 2 secondary to a novel mutation in UGT1A1 gene [homozygous base substitution at position 362 (GGT>AGT) in exon 3]. |
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Authors:
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Varun Aggarwal; Anju Seth; Sunita Sharma; Satinder Aneja; Pietro Sammarco; Carmelo Fabiano |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Pediatric blood & cancer Volume: 54 ISSN: 1545-5017 ISO Abbreviation: Pediatr Blood Cancer Publication Date: 2010 Apr |
Date Detail:
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Created Date: 2010-02-17 Completed Date: 2010-04-19 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101186624 Medline TA: Pediatr Blood Cancer Country: United States |
Other Details:
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Languages: eng Pagination: 627-8 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Lady Hardinge Medical College, New Delhi, India. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Crigler-Najjar Syndrome
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complications*,
genetics*,
therapy Erythrocyte Transfusion Fatal Outcome GABA Modulators / therapeutic use Glucuronosyltransferase / genetics Humans Infant Jaundice / genetics* Male Mutation Phenobarbital / therapeutic use beta-Thalassemia / genetics* |
| Chemical | |
Reg. No./Substance:
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0/GABA Modulators; 50-06-6/Phenobarbital; EC 2.4.1.-/bilirubin uridine-diphosphoglucuronosyl transferase 1A1; EC 2.4.1.17/Glucuronosyltransferase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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