Analysis of the Haematological Phenotype and Molecular Characteristics of Rare Abnormal Haemoglobin
We confirmed the presence of Hb Fukuyama (HBB:c.232C>T) in China for the first time. Three rare patients with the Hb Saint Etienne (HBB:c.279C>G) phenotype and one patient with Hb Port Phillip (HBA2:c.275T>C) phenotype were included. Our research enriches the gene mutation map of haemoglobinopathy in Guangdong province and improves the detection system of haemoglobinopathy for population prevention and eugenics.
Authors
- Wenhao Cui
- Yujing Yang
- Huizhuang Shan (ORCID: https://orcid.org/0009-0003-5591-1178)
- Yanfen Ge
- Yanfei Luo (ORCID: https://orcid.org/0000-0002-8739-3876)
- Junru Liu (ORCID: https://orcid.org/0000-0001-6462-3547)
- Ting Lin (ORCID: https://orcid.org/0000-0001-7413-7243)
- Guansheng Zheng
- Luhua Xian
Institutions
- Kingmed Diagnostics (CN)
- Guangdong Academy of Medical Sciences (CN)
- Guangdong Provincial People's Hospital (CN)
- Southern Medical University (CN)
- Guangzhou Medical University (CN)
Publication Details
- Journal
- Molecular Genetics & Genomic Medicine
- Published
- 2024-09-01
- DOI
- https://doi.org/10.1002/mgg3.70012
- Citations
- 2
- Primary Topic
- Hemoglobinopathies and Related Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.88
Funders
- National Natural Science Foundation of China
- Guangdong Provincial People's Hospital
- Guangzhou Municipal Science and Technology Project
- Basic and Applied Basic Research Foundation of Guangdong Province