Unveiling Novel and Rare Variants in the α-1,4-Galactosyltransferase Gene Leading to Rare p Phenotype in Indian Patients
This study presents the molecular characterization of the p phenotype in Indian patients, identifying novel variants not yet registered in the ISBT database. These findings enhance understanding of the p phenotype and highlight the significance of family screening for identifying rare blood donors. The study underscores the critical need for rare donor registries, especially for patients at high risk of severe hemolytic reactions during transfusion.
Authors
- Nidhi Bhatnagar (ORCID: https://orcid.org/0000-0003-0024-194X)
- Manisha Rajan Madkaikar (ORCID: https://orcid.org/0000-0001-6380-3116)
- Pooja Kshirsagar
- Goutham Raval (ORCID: https://orcid.org/0000-0002-5997-5019)
- Swati Kulkarni (ORCID: https://orcid.org/0000-0002-0288-2225)
- Shanthi Bonagiri
- Shahida Noushad
Institutions
- Nizam's Institute of Medical Sciences (IN)
- Government Medical College (IN)
- ICMR - National Institute of Immunohaemotology (IN)
- B.J. Medical College (IN)
Publication Details
- Journal
- Transfusion Medicine and Hemotherapy
- Published
- 2025-10-02
- DOI
- https://doi.org/10.1159/000548316
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Indian Council of Medical Research