Phenotype of sickle cell disease. Correlation of haplotypes and polymorphisms in cluster β, BCL11A, and HBS1L−MYB. Pilot study
We found a direct correlation between haplotypes and the number of SNPs. Haplotypes with higher levels of HbF and less severe phenotypes showed a higher number of SNPs. Thus, the Benin and Bantu haplotypes traditionally associated with poor prognosis showed the fewest mutated SNPs.
Authors
- Jorge Martínez Nieto (ORCID: https://orcid.org/0000-0001-9075-7100)
- Sara Rochas
- Miguel Gómez-Álvarez
- Miriam Peral
- Paloma Ropero (ORCID: https://orcid.org/0000-0002-5126-5039)
- Luis Javier Sánchez (ORCID: https://orcid.org/0000-0002-9700-3608)
- Ana Villegas (ORCID: https://orcid.org/0000-0003-3316-8953)
- Celina Benavente
- Fernando A. González
Institutions
- Universidad Complutense de Madrid (ES)
- Hospital Clínico San Carlos (ES)
- Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (ES)
- Instituto de Biomedicina y Genética Molecular de Valladolid (ES)
Publication Details
- Journal
- Frontiers in Medicine
- Published
- 2025-02-12
- DOI
- https://doi.org/10.3389/fmed.2025.1347026
- Citations
- 2
- Primary Topic
- Hemoglobinopathies and Related Disorders
- Type
- article
- Field-Weighted Citation Impact
- 3.25