clinical characteristics and gene mutations of gilbert syndrome complicated with myeloproliferative neoplasm

• DOI: 10.7534/j.issn.1009-2137.2017.02.046
• Publication Date: 2017-04-01
• Authors: Meili Ge; Jing Zhang; Jinbo Huang; Yizhou Zheng; Zhendong Huang; Jun Shi; Neng Nie; Xingxin Li; Yingqi Shao
• Keywords: Myeloproliferative Disorders; Mutation; Humans; Exons; Gilbert Disease; Glucuronosyltransferase; Janus Kinase 2; Bone Marrow Neoplasms

To investigate the clinical characteristics and gene mutations of patients with Gilbert syndrome complicated with myeloproliferative neoplasms (MPN).Peripheral blood samples from 1 patient with Gilbert syndrome complicated with MPN and his son were collected to analyse all exon mutations of UGT1A1 gene.The patient with leukocytosis, thrombocythemia, mild anemia and positive JAK2/V617F mutation was initially diagnosed as MPN. The hyperbilirubinemia suggested concurrent disease. Further gene evaluation disclosed a insertion mutation in the (TA)6TAA box, and a missense mutation(G→A) at 211 bp of exon 1, corresponding to the deficiency in the bilirubin-conjugating enzyme uridine-diphosphoglucuronosyl transferase1A1 (UGT1A1). His son only carried some polymorphism mutation without manifestation of this disease.It is a first report case of MPN complicated with Gilbert syndrome that can highlight the differential diagnosis for hyperbilirubinemia.