Hb Chapel Hill or Alpha2 74(EF3) Asp>Gly, a mildly unstable variant found in a Chinese family
Author:
Affiliation:
1. Medical Genetics Center, Guangdong Women and Children Hospital, Guangzhou, People’s Republic of China
Funder
The Science and Technology Program of Guangzhou
Publisher
Informa UK Limited
Subject
Hematology,Hematology
Link
https://www.tandfonline.com/doi/pdf/10.1080/16078454.2023.2187154
Reference14 articles.
1. The Prevalence and Molecular Spectrum of α- and β-Globin Gene Mutations in 14,332 Families of Guangdong Province, China
2. Haemoglobin Constant Spring (HbA2: c.427T > C) and haemoglobin Adana (HbA2: c.179G > A) in jaundiced Malaysian term neonates with clinically significant hyperbilirubinemia;Shwe S;Malays J Pathol,2020
3. Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies
4. Α case of late diagnosis of compound heterozygosity for Hb Adana (HBA2:c.179G > A) in trans to an α+- thalassemia deletion: guilty or innocent;Tampaki A;Hippokratia,2020
5. Hb Adana (HBA2 or HBA1: c.179G > A) and alpha thalassemia: Genotype-phenotype correlation
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1. Hematological and molecular characteristics of a novel α-globin variant Hb Liangqing ( HBA2 :c.224A>G);Hematology;2023-05-22
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