Phenotypic and genotypic analysis of patients with congenital factor VII deficiency in a multicenter study in Thailand
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...
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| Format: | Article |
| Language: | English |
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Elsevier
2022-12-01
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| Series: | Pediatric Hematology Oncology Journal |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2468124522002480 |
| _version_ | 1797975212365447168 |
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| author | Ampaiwan Chuansumrit Surapan Parapakpenjune Rungrote Natesirinilkul Patcharee Komvilaisak Werasak Sasanakul Nongnuch Sirachainan Anchalee Aramthienthamrong Chorthip Wattanasutthipong Kittima Kanchanakumhan Kunrada Inthawong Montana Chantaraniyom Naonpan Pongpaothai Nattaporntira Phalakornkul Nisakorn Khumchan Pacharapan Surapolchai Panjarat Sowittayasakul Somporn Wangruangsathit |
| author_facet | Ampaiwan Chuansumrit Surapan Parapakpenjune Rungrote Natesirinilkul Patcharee Komvilaisak Werasak Sasanakul Nongnuch Sirachainan Anchalee Aramthienthamrong Chorthip Wattanasutthipong Kittima Kanchanakumhan Kunrada Inthawong Montana Chantaraniyom Naonpan Pongpaothai Nattaporntira Phalakornkul Nisakorn Khumchan Pacharapan Surapolchai Panjarat Sowittayasakul Somporn Wangruangsathit |
| author_sort | Ampaiwan Chuansumrit |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-11T04:31:55Z |
| format | Article |
| id | doaj.art-cdadc6bb0b204cb8982be3f95df55ccb |
| institution | Directory Open Access Journal |
| issn | 2468-1245 |
| language | English |
| last_indexed | 2024-04-11T04:31:55Z |
| publishDate | 2022-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Pediatric Hematology Oncology Journal |
| spelling | doaj.art-cdadc6bb0b204cb8982be3f95df55ccb2022-12-29T04:13:44ZengElsevierPediatric Hematology Oncology Journal2468-12452022-12-0174130135Phenotypic and genotypic analysis of patients with congenital factor VII deficiency in a multicenter study in ThailandAmpaiwan Chuansumrit0Surapan Parapakpenjune1Rungrote Natesirinilkul2Patcharee Komvilaisak3Werasak Sasanakul4Nongnuch Sirachainan5Anchalee Aramthienthamrong6Chorthip Wattanasutthipong7Kittima Kanchanakumhan8Kunrada Inthawong9Montana Chantaraniyom10Naonpan Pongpaothai11Nattaporntira Phalakornkul12Nisakorn Khumchan13Pacharapan Surapolchai14Panjarat Sowittayasakul15Somporn Wangruangsathit16Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand; Corresponding author.Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, 270 Rama VI Road, Bangkok, 10400, Thailand.Division of Hematology, Maharat Nakhon Ratchasima Hospital, Nakhon Ratchasima, ThailandDepartment of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai, ThailandDepartment of Pediatrics, Srinagarind Hospital, Khon Kaen University, Khon Kaen, ThailandDepartment of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, ThailandDepartment of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, ThailandNopparatrajchatani Hospital, Bangkok, ThailandPranangklao Hospital, Nonthaburi, ThailandSawanpracharak Hospital, Nakhon Sawan, ThailandPhichit Hospital, Phichit, ThailandKhon Kaen Hospital, Khon Kaen, ThailandPranangklao Hospital, Nonthaburi, ThailandBhumibol Adulyadej Hospital, Bangkok, ThailandPetchabun Hospital, Petchabun, ThailandDepartment of Pediatrics, Faculty of Medicine, Thammasat University, Pathumthani, ThailandFaculty of Medicine, HRH Princess Maha Chakri Sirindhorn Medical Center, Rangsit-Nakhon Nayok, Ongkharak, Nakhon Nayok, ThailandBuddhachinaraj Hospital, Phitsanulok, ThailandObjective: 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.http://www.sciencedirect.com/science/article/pii/S2468124522002480Congenital factor VII deficiencyCNS bleedingGI bleedingLife-threatening bleedingNeonate |
| spellingShingle | Ampaiwan Chuansumrit Surapan Parapakpenjune Rungrote Natesirinilkul Patcharee Komvilaisak Werasak Sasanakul Nongnuch Sirachainan Anchalee Aramthienthamrong Chorthip Wattanasutthipong Kittima Kanchanakumhan Kunrada Inthawong Montana Chantaraniyom Naonpan Pongpaothai Nattaporntira Phalakornkul Nisakorn Khumchan Pacharapan Surapolchai Panjarat Sowittayasakul Somporn Wangruangsathit Phenotypic and genotypic analysis of patients with congenital factor VII deficiency in a multicenter study in Thailand Pediatric Hematology Oncology Journal Congenital factor VII deficiency CNS bleeding GI bleeding Life-threatening bleeding Neonate |
| title | Phenotypic and genotypic analysis of patients with congenital factor VII deficiency in a multicenter study in Thailand |
| title_full | Phenotypic and genotypic analysis of patients with congenital factor VII deficiency in a multicenter study in Thailand |
| title_fullStr | Phenotypic and genotypic analysis of patients with congenital factor VII deficiency in a multicenter study in Thailand |
| title_full_unstemmed | Phenotypic and genotypic analysis of patients with congenital factor VII deficiency in a multicenter study in Thailand |
| title_short | Phenotypic and genotypic analysis of patients with congenital factor VII deficiency in a multicenter study in Thailand |
| title_sort | phenotypic and genotypic analysis of patients with congenital factor vii deficiency in a multicenter study in thailand |
| topic | Congenital factor VII deficiency CNS bleeding GI bleeding Life-threatening bleeding Neonate |
| url | http://www.sciencedirect.com/science/article/pii/S2468124522002480 |
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