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Hematology Volume 27, 2022 - Issue 1
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Case Report

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

Diandian Lia Department of Respiratory and Critical Care Medicine, West China Hospital of Sichuan University, Chengdu, People’s Republic of ChinaView further author information
,
Qunfang Wana Department of Respiratory and Critical Care Medicine, West China Hospital of Sichuan University, Chengdu, People’s Republic of ChinaView further author information
,
Chunyu Lib Department of Neurology, West China Hospital of Sichuan University, Chengdu, People’s Republic of ChinaView further author information
,
Hongbing Mac Department of Hematology, West China Hospital of Sichuan University, Chengdu, People’s Republic of ChinaCorrespondence[email protected]
ORCID Iconhttps://orcid.org/0000-0002-1174-4078View further author information
ORCID Icon &
Gang Wanga Department of Respiratory and Critical Care Medicine, West China Hospital of Sichuan University, Chengdu, People’s Republic of ChinaView further author information
Pages 1204-1207 | Published online: 04 Nov 2022

Figures & data

Figure 1. Pedigree of the patient’s family with low SpO2 readings.

Figure 1. Pedigree of the patient’s family with low SpO2 readings.

Figure 2. Sanger sequence identified heterozygosity for a mutation of the β-hemoglobin chain in exon 2 at codon 38 (HBB: c.112T>A, p.Trp38Arg).

Figure 2. Sanger sequence identified heterozygosity for a mutation of the β-hemoglobin chain in exon 2 at codon 38 (HBB: c.112T>A, p.Trp38Arg).

Figure 3. The electropherogram of the patient (A) and his daughter (B) derived from capillary electrophoresis.

Figure 3. The electropherogram of the patient (A) and his daughter (B) derived from capillary electrophoresis.

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