In addition, a patient with mild HA and HR showed the missense p.Glu1704Lys associated with two neutral intronic substitutions

potentially affecting the A3 domain. A case/control study (84/143) permitted estimation of F8 genotype–specific inhibitor risks [OR; prevalence (CI)] in severe-HA patients classifying a high-risk group including multi-exon deletions [3.66; 55% (19–100)], Inv22 [1.8; 24% (19–100)] and nonsense in FVIII-LCh [1.2; 21% (7–59)]; an average risk group including single-exon deletions, indel frameshifts and nonsense-HCh; and a low-risk group represented by missense defects [0.14; 3% (0.6–11)]. Analysis of inhibitor concordance/discordance in related patients indicated additional genetic factors other than F8 genotype for inhibitor formation. No significant EX 527 ic50 inhibitor-predisposing factors related to FVIII

product exposure were found selleck compound in age- and F8 genotype–stratified populations of severe-HA patients. In conclusion, the Argentine HA patient series presents similar global and mutation-specific inhibitor risks than the HA database and other published series. This case-specific information will help in designing fitted therapies and follow-up protocols in Argentina. “
“The multifactorial nature of disability makes it difficult to point out a specific cause for limitations in participation. The conceptual framework of the WHO-ICF (International Classification of Function, Disability and Health) was used to study the determinants participation in patients with severe haemophilia. Outcome was assessed in a single-centre else cohort of 124 patients with severe haemophilia. Joint mobility and muscle strength of the elbows, knees and ankles, in combination with recent X-ray findings (N = 39 only) and the MPQ-DLV pain questionnaire were used to assess Body Functions and Structures. Four performance-based functional tasks and the HAL questionnaire were used to assess Activities. The IPA questionnaire was used to assess Participation. Stepwise and hierarchical regression analysis adjusted for age

and psychological health (Dutch-AIMS 2) was used to associate the various domains of the ICF. Irrespective of age, joint mobility was an important factor in explaining self-reported and performance-based activities. Muscle strength had no significant association with participation. Self-reported activities showed a stronger association with participation than performance-based activities. Adjusted for age and psychological health, joint mobility and pain explained none of the variation in participation. Self-reported activities, however, significantly contributed in explaining participation (25%), whereas performance-based activities (3%) did not. This study adds to the knowledge of determinants of participation in haemophilia.