A New δ-Globin Gene Variant: Hb A2-Yulin [δ46(CD5)Gly→Arg, HBD : C.139G > A]
Author:
Affiliation:
1. Department of Clinical Laboratory, Luchuan Women and Children Health Care Hospital, Yulin, China
2. Center for Medical Genetics and Prenatal Diagnosis, People’s Hospital of Guangxi Zhuang Autonomous Region, Nanning, China
Funder
Natural Science Foundation of Guangxi
Health Department Research Fund of Guangxi
Publisher
Informa UK Limited
Link
https://www.tandfonline.com/doi/pdf/10.1080/03630269.2024.2325443
Reference10 articles.
1. Mutational spectrum of HBD gene in the Chinese population: Description of 36 mutations including 11 novel variants
2. Molecular Characterization ofδ-Thalassemia in Iran
3. Normal Hb A2β-Thalassemia Trait: Frameshift Mutation (HBB: c.187_251dup) inCiswith the Hb A2’δ-Globin Gene Missense Mutation (HBD: c.49G>C)
4. Detection of a Hb A 2 ‐Melbourne (HBD: c.130G>A) combined with β‐thalassemia in a Chinese individual
5. A novel δ-globin gene mutation (HBD: c.323G>A) masking the diagnosis of β-thalassemia: a first report from India
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1. Hb A 2 -Guangxi [δ79 (EF3) Asp→Asn, HBD : C.238G > A] and polyA + 70 ( HBD : C.*200G > A): Two Novel δ-Globin Gene Mutations Identified in a Chinese Family;Hemoglobin;2024-08-23
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