Compound Heterozygosity for Hb Port Phillip and the –α <sup>3.7</sup> Deletion Leads to Persistent Hypoxemia in a Chinese Pediatric Family
deletion with hypoxemia in a Chinese family, thus broadening the phenotype-genotype spectrum of hemoglobinopathies. The unexpected low oxygen saturation may result from a hemoglobin variant in the setting of mild microcytic anemia; hemoglobin electrophoresis and genetic testing are crucial for accurate diagnosis and can prevent unnecessary interventions.
Authors
- Hualei Luo (ORCID: https://orcid.org/0000-0002-5171-5474)
- Xiaoying Fu (ORCID: https://orcid.org/0000-0003-4210-3510)
- Tao Wu (ORCID: https://orcid.org/0000-0003-4170-4314)
- Yunsheng Chen (ORCID: https://orcid.org/0000-0002-8520-9852)
- Yuhua Ye (ORCID: https://orcid.org/0000-0002-8037-2175)
- Zhenmin Ren
- Jiehua Chen
- Nan Cheng
Institutions
- Shenzhen Children's Hospital (CN)
- Southern Medical University (CN)
Publication Details
- Journal
- Hemoglobin
- Published
- 2026-08-03
- DOI
- https://doi.org/10.1080/03630269.2026.2676643
- Primary Topic
- Hemoglobinopathies and Related Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00