Molecular basis of non-deletional HPFH in Thailand and identification of two novel mutations at the binding sites of CCAAT and GATA-1 transcription factors.
Journal
Scientific reports
ISSN: 2045-2322
Titre abrégé: Sci Rep
Pays: England
ID NLM: 101563288
Informations de publication
Date de publication:
24 07 2023
24 07 2023
Historique:
received:
20
10
2022
accepted:
20
07
2023
medline:
26
7
2023
pubmed:
25
7
2023
entrez:
24
7
2023
Statut:
epublish
Résumé
High Hb F determinants are genetic defects associated with increased expression of hemoglobin F in adult life, classified as deletional and non-deletional forms. We report the first description of non-deletional hereditary persistence of fetal hemoglobin (HFPH) in Thailand. Study was done on 388 subjects suspected of non-deletional HPFH with elevated Hb F expression. Mutations in the
Identifiants
pubmed: 37488161
doi: 10.1038/s41598-023-39173-8
pii: 10.1038/s41598-023-39173-8
pmc: PMC10366219
doi:
Substances chimiques
GATA Transcription Factors
0
gamma-Globins
0
Transcription Factors
0
Fetal Hemoglobin
9034-63-3
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
11926Informations de copyright
© 2023. The Author(s).
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