Hb Chapel Hill or Alpha2 74(EF3) Asp>Gly, a mildly unstable variant found in a Chinese family

Author:

Tang Bin1,Wang Jicheng1,Qin Danqinq1,Yao Cuize1,Chen Keyi1,Liang Lihua1,Chai Huiying1,Guo Hao1,Du Li1

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

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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