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Article

Genetic diagnosis and pathogenic analysis of an atypical hereditary spherocytosis combined with UGT1A1 partial deficiency: A case report.

Molecular medicine reports - 1 Jan 2018

Yi Yan, Dang Xiqiang, Li Yonggui, Zhao Chenyu, Tang Haiyan, Shi Xiaoliu

Abstract excerpt

Patients with combined hereditary spherocytosis (HS) and uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) deficiency have been reported sporadically. A discrepancy between the level of elevated serum bilirubin concentration and the degree of anemia may suggest the possibility of a coexistence of these conditions. In the present case report, a 20‑year‑old female presented with congenital jaundice and...

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Identifiers

PMID: 29115431
DOI: 10.3892/mmr.2017.7867

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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