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A case of Hb Rothschild (HBB: c.112T>A) with low pulse oximetry: a first familial presentation in China.

Hematology (Amsterdam, Netherlands) - 1 Dec 2022

Li Diandian, Wan Qunfang, Li Chunyu, Ma Hongbing, Wang Gang

Abstract excerpt

A 37-year-old Chinese man complained of recurrent dyspnea, with low pulse oximetry (SpO2) and normal partial pressure of oxygen (PaO2) by blood gas analysis. The patient's P50 was elevated at 47.3 mmHg, while hemoglobin fraction by capillary electrophoresis revealed an abnormal HbD quantified at 43.2%. Further DNA analysis by whole exome sequencing (WES) identified heterozygosity for a mutation in exon 2 at codon...

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PMID: 36330781
DOI: 10.1080/16078454.2022.2140998

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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