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Article

A β-Thalassemia Trait with Two Mutations in Cis in a Chinese Family.

Hemoglobin - 1 Jan 2000

Li Jian, Jiang Fan, Zhen Li, Tang Xue-Wei, Li Dong-Zhi

Abstract excerpt

A female of Chinese origin carried the codon 43 (G>T) (HBB: c.130G > T) and codons 71/72 (+A) (HBB: c.216_217insA) mutations of the β-globin gene in cis, identified during prenatal thalassemia screening. The double in cis mutations were inherited from her mother. Both of the two carriers behave as a traditional heterozygote for β-thalassemia (β-thal) with microcytosis and a high Hb A2 level. This case report...

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Identifiers

PMID: 31690135
DOI: 10.1080/03630269.2019.1686011

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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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