Genetic Mutations of Congenital Red Cell Membrane Defects in Hydrops Fetalis
This study identified SPTB gene mutations associated with HPP. Early detection of hydrops fetalis caused by severe anemia, along with confirmation of the underlying genetic mutation, is essential for timely and effective clinical intervention. Intrauterine transfusion remains a viable therapeutic option to sustain pregnancy and enhance fetal survival. Further research is needed to refine the management strategies for HPP-associated hydrops fetalis and to improve perinatal outcomes.
Authors
- Pakaphan Kiatchoosakun (ORCID: https://orcid.org/0000-0003-4997-7253)
- Nongnuch Sirachainan (ORCID: https://orcid.org/0000-0001-8039-5476)
- Ratana Komwilaisak (ORCID: https://orcid.org/0000-0002-4118-8957)
- Khunton Wichajarn (ORCID: https://orcid.org/0000-0003-4324-7487)
- Napat Laoaroon (ORCID: https://orcid.org/0000-0003-1517-9464)
- Pongsatorn Paopongsawan (ORCID: https://orcid.org/0000-0002-9503-4312)
- Junya Jirapradittha
- Patcharee Komvilaisak (ORCID: https://orcid.org/0000-0002-6804-9121)
- Kunanya Suwannying (ORCID: https://orcid.org/0000-0002-7517-1416)
- Chanoknun Jaruk
Institutions
- Khon Kaen University (TH)
- Mahidol University (TH)
- Ramathibodi Hospital (TH)
Publication Details
- Journal
- Fetal Diagnosis and Therapy
- Published
- 2025-08-28
- DOI
- https://doi.org/10.1159/000548041
- Primary Topic
- Erythrocyte Function and Pathophysiology
- Type
- article
- Field-Weighted Citation Impact
- 0.00