Phenotypic and genotypic analysis of patients with congenital factor VII deficiency in a multicenter study in Thailand
Issued Date
2022-12-01
Resource Type
eISSN
24681245
Scopus ID
2-s2.0-85152474311
Journal Title
Pediatric Hematology Oncology Journal
Volume
7
Issue
4
Start Page
130
End Page
135
Rights Holder(s)
SCOPUS
Bibliographic Citation
Pediatric Hematology Oncology Journal Vol.7 No.4 (2022) , 130-135
Suggested Citation
Chuansumrit A., Parapakpenjune S., Natesirinilkul R., Komvilaisak P., Sasanakul W., Sirachainan N., Aramthienthamrong A., Wattanasutthipong C., Kanchanakumhan K., Inthawong K., Chantaraniyom M., Pongpaothai N., Phalakornkul N., Khumchan N., Surapolchai P., Sowittayasakul P., Wangruangsathit S. Phenotypic and genotypic analysis of patients with congenital factor VII deficiency in a multicenter study in Thailand. Pediatric Hematology Oncology Journal Vol.7 No.4 (2022) , 130-135. 135. doi:10.1016/j.phoj.2022.08.003 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/87154
Title
Phenotypic and genotypic analysis of patients with congenital factor VII deficiency in a multicenter study in Thailand
Author's Affiliation
Faculty of Medicine, Chiang Mai University
Bhumibol Adulyadej Hospital
Khon Kaen University
Faculty of Medicine Ramathibodi Hospital, Mahidol University
Faculty of Medicine, Thammasat University
Maharaj Nakhon Ratchasima Hospital
Khon Kaen Regional Hospital
Buddhachinaraj Hospital
Sawanpracharak Hospital
Nopparatrajchatani Hospital
Phichit Hospital
Pranangklao Hospital
Petchabun Hospital
Bhumibol Adulyadej Hospital
Khon Kaen University
Faculty of Medicine Ramathibodi Hospital, Mahidol University
Faculty of Medicine, Thammasat University
Maharaj Nakhon Ratchasima Hospital
Khon Kaen Regional Hospital
Buddhachinaraj Hospital
Sawanpracharak Hospital
Nopparatrajchatani Hospital
Phichit Hospital
Pranangklao Hospital
Petchabun Hospital
Other Contributor(s)
Abstract
Objective: The phenotypic and genotypic analysis of patients with congenital factor VII deficiency were retrospectively conducted. Methods: The study included 26 patients defined as severe (n = 25) and moderate (n = 1) degree by FVII <10% and 10–20%, respectively. Results: The diagnosis of factor VII deficiency was based on an isolated prolonged prothrombin time with subsequent factor assay. The median age of first bleed was 7 days (IQR 2–11.2 days). Central nervous system and gastrointestinal tract bleeding were found among all patients with severe degree. Patients with FVII <1–3% exhibited serious bleeding during the first week to the first month of life while patients with FVII >3% did not exhibit serious spontaneous bleeding. The initial bleeding episodes were controlled by administering fresh frozen plasma (FFP) and switched to factor concentrates among a few patients upon definite diagnosis. Subsequent prophylaxis was provided to patients with initial severe bleeding manifestation using FFP (15 ml/kg) 2–3 times weekly or recombinant factor VIIa (90 μg/kg) twice weekly. Genotypic analysis revealed homozygous or double heterozygous mutations among all patients except one patient with heterozygous mutation combined with homozygous polymorphism at codon 413 of G to A substitution (AA) at exon 8 of the FVII gene. The FVII gene mutation was commonly found at IVS6+1G > T (38.3%), followed by p.K376 X (19.2%) and IVS2+2T > C (17.0%). The case fatality rate was 19.2% (5/26) among patients with severe degree. Conclusion: Early diagnosis and appropriate management of congenital factor VII deficiency is essential for favorable outcomes.