Hereditary Genetics: Current Research

Hereditary Genetics: Current Research
Open Access

ISSN: 2161-1041


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Berrin Monteleone

  • Case Report
    Case Of Severe Unconjugated Hyperbilirubinemia In A Neonate Heterozygous For Gilbert Syndrome
    Author(s): Rebecca Abell, Berrin Monteleone and Anupama ChawlaRebecca Abell, Berrin Monteleone and Anupama Chawla

    We present an unusual case of unconjugated hyperbilirubinemia in a 6 day old infant. The bilirubin peaked at 20.1/ 0.6 mg/dL. A work-up for a hemolytic process or metabolic disorder was negative. Crigler-Najjar was suspected. Phenobarbital was given for 3 days with no significant change in bilirubin level. He was discharged home after 20 days of phototherapy with a bilirubin of 3.1/0.4 mg/dL. Five months later, his bilirubin was 0.2 mg/dL. His genetic testing came back positive for a heterozygous mutation for Gilbert Syndrome. In the UGT1A1 gene he had the following mutations: heterozygous *28 (TA 6/7) (c. 40-39insTA), heterozygous *60 (c-3275T>G), and heterozygous *93 (c.- 3152G>A). This result is consistent with a carrier state for unconjugated hyperbilirubinemia and may be associated with mild to moderate hyperbilirubinemia. The relevance of this haplotype of polymorphisms to.. Read More»
    DOI: 10.4172/2161-1041.1000114

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