Pediatric Hematology Oncology Journal (Dec 2022)

Phenotypic and genotypic analysis of patients with congenital factor VII deficiency in a multicenter study in Thailand

  • 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

Journal volume & issue
Vol. 7, no. 4
pp. 130 – 135

Abstract

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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 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.

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