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
Author:
Affiliation:
1. Center for Medical Genetics and Prenatal Diagnosis, People’s Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, People’s Republic of China
Funder
Natural Science Foundation of Guangxi
Health Department Research Fund of Guangxi
Publisher
Informa UK Limited
Link
https://www.tandfonline.com/doi/pdf/10.1080/03630269.2024.2390934
Reference12 articles.
1. δ-Hemoglobinopathies in Thailand: screening, molecular basis, genotype-phenotype interaction, and implication for prevention and control of thalassemia
2. Prospective screening for δ-hemoglobinopathies associated with decreased hemoglobin A2 levels or hemoglobin A2 variants: A single center experience
3. Analysis of δ-globin gene alleles in Tunisians: description of three new delta-thalassemia mutations
4. The significance of the hemoglobin A2 value in screening for hemoglobinopathies
5. Detection of a Hb A 2 ‐Melbourne (HBD: c.130G>A) combined with β‐thalassemia in a Chinese individual
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