The clinical and genetic landscape of early-onset thrombophilia in Japan.

Naoki EgamiMasataka IshimuraMasayuki OchiaiMasako IchiyamaHirosuke InoueSouichi SuenobuToshiya NishikuboKeiji NogamiAkira IshiguroTaeko HottaTakeshi UchiumiDongchon KangShouichi Ohga

Published in: Pediatric blood & cancer (2023)

We demonstrate the need for elective screening for EOT targeting PC deficiency in Japan. Early prenatal diagnosis of PC deficiency in mother-infant pairs may prevent perinatal thrombosis in them.

Keyphrases

early onset
late onset
replacement therapy
pulmonary embolism
pregnant women
patients undergoing
cancer therapy
copy number
drug delivery
gene expression