Novel HBB:c.375_376delAC mutation in a Malay patient with HbE beta-thalassemia intermedia: A case report
Identifying this novel compound heterozygosity contributes to our understanding of the genetic landscape of HbE-BT in Malaysia. This case reinforces the importance of comprehensive molecular analysis for accurate diagnosis, and it has important implications for improving long-term management and genetic counseling strategies for patients with thalassemia syndromes.
Authors
- Nur Aisyah Aziz (ORCID: https://orcid.org/0000-0002-4527-0704)
- Norodiyah Othman (ORCID: https://orcid.org/0000-0002-2248-3256)
- Faidatul Syazlin Abdul Hamid (ORCID: https://orcid.org/0009-0006-8471-7712)
- Ernie Zuraida Ali (ORCID: https://orcid.org/0000-0001-9884-7389)
- Mohd Khairul Nizam Mohd Khalid (ORCID: https://orcid.org/0000-0001-7200-3102)
- Syahzuwan Hassan (ORCID: https://orcid.org/0000-0002-9886-504X)
- Ezalia Esa (ORCID: https://orcid.org/0000-0001-8699-1017)
- Nursaedah Abdullah Aziz (ORCID: https://orcid.org/0000-0003-1978-5947)
- Wan Rohani Wan Taib (ORCID: https://orcid.org/0000-0001-9455-5768)
- Khomsaton Abu Bakar (ORCID: https://orcid.org/0000-0002-1389-9049)
Institutions
- Ministry of Health (MY)
- Sultan Abdul Halim Hospital (MY)
- ABS Consulting (United States) (US)
- Sultan Zainal Abidin University (MY)
Publication Details
- Journal
- Medicine
- Published
- 2025-09-26
- DOI
- https://doi.org/10.1097/md.0000000000044817
- Primary Topic
- Hemoglobinopathies and Related Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00