Hb Amsterdam-A1 [α32(B13)Met→Ile; HBA1: c.99G>A]: A Hyperunstable Variant Due to a New Mutation on the α1 Gene
Author:
Affiliation:
1. Molecular Pathology Laboratory, University of Otago, Christchurch, New Zealand;
2. Canterbury Health Laboratories, Christchurch, New Zealand;
3. Protein Science and Engineering, Callaghan Innovation, Christchurch, New Zealand
Publisher
Informa UK Limited
Subject
Biochemistry (medical),Clinical Biochemistry,Genetics (clinical),Hematology
Link
https://www.tandfonline.com/doi/pdf/10.1080/03630269.2017.1311911
Reference15 articles.
1. Unstable and Thalassemic α Chain Hemoglobin Variants: A Cause of Hb H Disease and Thalassemia Intermedia
2. Hb GROENE HART: A NEW Pro→Ser AMINO ACID SUBSTITUTION AT POSITION 119 OF THEα1-GLOBIN CHAIN IS ASSOCIATED WITH A MILDα-THALASSEMIA PHENOTYPE
3. The First Case of Hb Groene Hart [α119(H2)Pro→Ser,CCT→TCT (α1)] Homozygosity Confirms That a Thalassemia Phenotype Is Associated with this Abnormal Hemoglobin Variant
4. Hb Cervantes, Hb Marañón, Hb La Mancha and Hb Goya: Description of 4 new haemoglobinopathies
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