High prevalence and molecular spectrum of β-thalassemia trait in Haripur and Abbottabad districts of Pakistan: implications for regional carrier screening programs
This high local carrier rate, well above Pakistan's national estimate of 5-8%, and the presence of compound heterozygotes underscore a concentrated genetic burden and the need for region-specific screening, premarital counseling, and expansion of molecular diagnostic services.
Authors
- Usman Ayub Awan (ORCID: https://orcid.org/0000-0003-1183-2788)
- Asma Naeem (ORCID: https://orcid.org/0009-0008-6816-6169)
- Muhammad Zohaib (ORCID: https://orcid.org/0000-0002-6664-9414)
- Ehtisham Ul Haq (ORCID: https://orcid.org/0000-0001-9431-3355)
- Sadiq Noor Khan (ORCID: https://orcid.org/0000-0003-3799-6107)
- Ghufran Uddin (ORCID: https://orcid.org/0000-0003-0577-4315)
Institutions
- University of Haripur (PK)
- Kidney Centre (PK)
Publication Details
- Journal
- Egyptian Journal of Medical Human Genetics
- Published
- 2025-10-15
- DOI
- https://doi.org/10.1186/s43042-025-00795-4
- Citations
- 1
- Primary Topic
- Hemoglobinopathies and Related Disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.63