Efficacy of Prophylaxis and Genotype-Phenotype Correlation in Patients With Severe Factor X Deficiency in Iran Publisher Pubmed



Karimi M¹ ; Vafafar A¹ ; Haghpanah S¹ ; Payandeh M² ; Eshghi P³ ; Hoofar H⁴ ; Afrasiabi A¹ ; Gerdabi J¹ ; Ardeshiri R¹ ; Menegatti M⁵ ; Peyvandi F⁵
Source: Haemophilia Published:2012

Abstract

Summary. We aimed to evaluate the effect of regular prophylaxis with a Factor X (FX) concentrate for patients with severe FXD in Iran and to assess the correlation of the genotype and phenotype in these patients. Ten patients with severe FXD (FX activity <1%) were enrolled and characterized during 2010-2011. Prophylaxis with 20IU FX P Behring per kg body weight was administered once a week. FX levels, were monitored at baseline, 15 and 30min, 1, 3, 6, 12, 24, 48, 72 and 96h after starting prophylaxis. All patients were followed for 1year. The mean age of the patients was 15±7.8years (age range of: 6-27years). One patient had anaphylactic reaction after the first infusion, and the treatment was stopped. During one-year follow-up after starting prophylaxis, no bleeding symptoms occurred in any patient who tolerated and remained on the prophylaxis programme and all of them had a FX level of 1% or above. The maximum level of FX activity has been observed at 15min after starting prophylaxis. A level of 1.5-3.5% was detected after 96h. Homozygous mutations p.Arg40Thr (Arg-1Thr), p.Gly51Arg and p.Glu69Lys were detected in patients with intracranial haemorrhage. In our patients, significant decrease in symptoms without any complication after administration of FX, was demonstrated in all except one patient who had an anaphylactic reaction. It seems that the dose of 20IUkg -1 could be probably the best choice for patients with severe FXD, who require regular prophylaxis. © 2011 Blackwell Publishing Ltd.