Factor VII Padua in Iran: A Study on 150 Patients With Factor VII Deficiency

IntroductionFactor (F) VII Padua is an ultra-rare type II FVII deficiency characterized by discrepancies in FVII activity across different thromboplastin types. Due to the high prevalence of consanguineous marriages in Iran, rare bleeding disorders, including FVII deficiency, are more common. Accurate identification of FVII Padua is critical to avoid inappropriate treatments and thrombotic risks.AimThis study aimed to determine the incidence and clinical and laboratory characteristics of FVII Padua among Iranian patients with FVII deficiency.MethodOne hundred fifty Iranian patients aged 18 years or older with confirmed FVII deficiency were included. PT testing was performed using rabbit brain, human placenta and recombinant human thromboplastins. Patients with PT discrepancies consistent with FVII Padua underwent genetic analysis of F7 exon 9 for the Arg364Gln mutation.ResultsThirteen patients (8.6%) exhibited PT patterns indicative of FVII Padua. HRM analysis identified nine heterozygous and two homozygous cases for the Padua variant; subsequently, sequencing analysis confirmed the Arg364Gln variant in two patients. Sequencing also revealed four additional variants in exon 9. The confirmed Padua cases presented diverse manifestations, ranging from asymptomatic to symptomatic, including bruising, epistaxis, gastrointestinal bleeding and gum bleeding.ConclusionFVII Padua is relatively prevalent among Iranian patients with FVII deficiency . Molecular testing is essential for accurate diagnosis, enabling appropriate management and preventing unnecessary interventions. Tailored diagnostic strategies are crucial in regions with high consanguinity rates to optimize patient care and reduce thrombotic risks.