<scp>ACMG</scp> / <scp>AMP</scp> ‐Based Variant Classification of a Novel <scp> <i>HBA2</i> </scp> Variant ( <scp> <i>HBA2</i> </scp> : C.297del, Hb Taiping) in Compound Heterozygosity With Hb Adana ( <scp> <i>HBA2</i> </scp> :C. <scp>179G</scp> >
This study identifies and characterises a novel α-globin gene variant, Hb Taiping, in a Malay family with α-thalassaemia. The discovery contributes to the growing body of pathogenic mutations linked to α-thalassaemia and underscores the importance of precise variant classification for effective diagnosis, risk assessment, and genetic counselling.
Authors
- Ezzanie Suffya Zulkefli (ORCID: https://orcid.org/0000-0003-0270-6034)
- Norsarwany Mohamad (ORCID: https://orcid.org/0000-0001-8214-2384)
- Faidatul Syazlin Abdul Hamid (ORCID: https://orcid.org/0009-0006-8471-7712)
- Norafiza Mohd Yasin (ORCID: https://orcid.org/0000-0003-4202-2438)
- Syahzuwan Hassan (ORCID: https://orcid.org/0000-0002-9886-504X)
- Thessalia Papasavva (ORCID: https://orcid.org/0000-0001-9279-4810)
- Mohd. Nazif Darawi
- Sandra J. G. Arkesteijn
- Cornelis L. Harteveld
- Suguna Somasundram (ORCID: https://orcid.org/0009-0009-6313-2979)
- Coralea Stephanou
- Petros Kountouris
- Tamara Koopman
- Chin Ming Lee
- Nur Aisyah Aziz
Institutions
- Management and Science University (MY)
- University of Selangor (MY)
- Leiden University Medical Center (NL)
- Taiping Hospital (MY)
- Institute of Clinical Research (GB)
- Cyprus Institute of Neurology and Genetics (CY)
Publication Details
- Journal
- International Journal of Laboratory Hematology
- Published
- 2026-01-06
- DOI
- https://doi.org/10.1111/ijlh.70037
- Primary Topic
- Hemoglobinopathies and Related Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Kementerian Kesihatan Malaysia