Database on Rare Bleeding Disorder (Rbds): Phenotype and Genotype Analysis on 400 Affected Patients

Spreafico, M.; Menegatti, Marzia; Garagiola, Isabella; Palla, Roberta; Tagliabue, Luca; Karimi, Mehran; Lak, M; Srivastava, Anjil Kumar; Saxena, Richa; Shetty, Sanjay K.; Kavaklı, Kaan; Dolničar, Majda Benedik; Aronis-Vournas, S.; Asselta, Rosanna; Duga, Stefano; Pm, Mannucci; Peyvandi, Flora

doi:10.1111/j.1538-7836.2007.tb01143.x

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Section: Introductionmentioning

confidence: 99%

“…10,11 In the RBDD context, Spreafico et al had collected data from 19 countries and genetic analyses had been performed in 400 patients. 12 The phenotypes, results of therapeutic applications, and genetic mutations of FVII-deficient patients were collected and also reported by many special registry systems. [13][14][15][16] Fresh frozen plasma (FFP), prothrombin-complex concentrate (PCC), activated PCC (aPCC), plasma-derived human FVII (pdFVII), and recombinant activated FVII (rFVIIa) may be used for bleeding episodes in FVII deficiency.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Factor VII Deficiency

Salcioglu

Akçay

Şen

et al. 2012

Clin Appl Thromb Hemost

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Congenital factor VII deficiency is the most common form of rare coagulation factor deficiencies. This article presents a retrospective evaluation of 73 factor VII deficiency cases that had been followed at our center. The study consisted of 48 males and 25 females (2 months-19 years). Thirty-one (42.5%) of them were asymptomatic. Out of symptomatic patients, 17 had severe clinical symptoms, whereas 8 presented with moderate and 17 with mild symptoms. The symptoms listed in order of frequency were as follows: epistaxis, petechia or ecchymose, easy bruising, and oral cavity bleeding. The genotype was determined in 8 patients. Recombinant activated factor VII (rFVIIa) was used to treat 49 bleeding episodes in 8 patients after 2002. In 2 patients with repeated central nervous system bleeding prophylaxis with rFVIIa was administered. No allergic and thrombotic events were observed during both treatment and prophylaxis courses. Antibody occurrence was not detected in the patients during treatment.

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