Clinical application of extended half-life factor VIII in children with severe haemophilia A.

Introduction: Only few studies have presented results from real-world clinical use of Extended Half-Life (EHL) products in children with haemophilia (CWH).

Aim: To retrospectively examine real-life experience with EHL factor VIII products use in CWH A, comparing with clinical experience from standard half-life products (SHL).

Methods: A retrospective review of medical records of CWH A who have been prescribed EHL factor concentrates was conducted.

Venous thromboembolism at uncommon sites in neonates and children.

We retrospectively analyzed the data of 24 children (whereof 11 neonates), with non-central venous line-related and nonmalignancy-related venous thromboembolism (VTE) at uncommon sites, referred to our Unit from January 1999 to January 2012. Thirty patients who also suffered deep vein thrombosis, but in upper/low extremities, were not included in the analysis. The location of rare site VTE was: portal (n=7), mesenteric (n=2) and left facial vein (n=1), spleen (n=3), lung (n=3), whereas 10 neonates developed renal venous thrombosis.

Impact of HLA alleles and cytokine polymorphisms on inhibitors development in children with severe haemophilia A.

Human Leucocyte Antigen (HLA) alleles, cytokine polymorphisms and the type of factor VIII (FVIII) gene mutation are among predisposing factors for inhibitors (inh) development in children with severe haemophilia A (HA). The aim was to investigate the correlations among (i) FVIII gene intron-22 inversion, (ii) HLA alleles and haplotypes and (iii) certain cytokine polymorphisms, with the risk for FVIII inhibitors development in 52 Greek severe HA children, exclusively treated with recombinant concentrates. We performed Long-Range PCR for detection of intron-22 inversion and PCR-SSP, PCR-SSO for genotyping of HLA-A, B, C, DRB1, DQB1 alleles and also for cytokine polymorphisms of TNF-α, TGF-β1, IL-10, IL-6 and IFN-γ.