Article
Genetic Mutations of Congenital Red Cell Membrane Defects in Hydrops Fetalis.
Fetal diagnosis and therapy - 1 Jan 2026
Komvilaisak Patcharee, Wichajarn Khunton, Jaruk Chanoknun, Komwilaisak Ratana, Sirachainan Nongnuch, Laoaroon Napat, Jirapradittha Junya, Paopongsawan Pongsatorn, Kiatchoosakun Pakaphan, Suwannaying Kunanya
Abstract excerpt
INTRODUCTION: Hereditary pyropoikilocytosis (HPP) is a rare genetic disorder causing severe fetal anemia, often leading to hydrops fetalis. This study evaluates intrauterine blood transfusion (IUT) efficacy and associated genetic mutations in Northeastern Thai patients. METHODS: Eight fetuses with hydrops fetalis were identified between 17 and 30+6 weeks' gestation, with initial hematocrit levels of 8.7-16.7%....
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