Successful carrier ­identification by ­messenger ­RNA ­analys is ­for ­one ­hemophilia­ A family ­without­ found­ DNA­ mutations

Chia-Yau Chang, Shu-Hsia Hu, Shyr-Yi Lin, Yeu Chin Chen

Research output: Contribution to journalSpecial issuepeer-review


Introduction­and ­Objectives: Identifying carrier status for female members in a hemophilia family is important for genetic counseling. There are 2~7% of Hemophilia A (HA) patients whose mutations can-not be found by DNA-based analysis of F8 gene. For those patients without found DNA mutations, identification of carrier status for female members is very difficult because of the existing wild-type X- chromosome. We aimed to share our experience to identify the carrier status by mRNA analysis with customized primers in a HA family with skipped exon 19 transcript
Original languageEnglish
Article numberT-­P-­001­(351)
Pages (from-to)193
Number of pages1
Issue numberS5
Publication statusPublished - May 2018


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