Browsing by Author "Morais, S"
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- Cross-Sectional Epidemiological Study to Understand the Approach to Treatment in the Routine Care of Patients with Hemophilia B in Spain and PortugalPublication . Álvarez-Román, MT; Carvalho, M; Benítez-Hidalgo, O; Catarino, C; García-Frade, LJ; Rodríguez-López, M; Antunes, M; Fernández-Mosteirín, N; Kjöllerström, P; Morais, S; Galmes, B; López-Fernández, MF; Riera-Sans, L; Rodrigues, JF; Jiménez-Yuste, V; Salvado, RIntroduction: Treatment options for patients with hemophilia B (PWHB) have improved in the last decade, but epidemiological studies are required to optimize clinical management and define unmet needs. Objective: The objective of the study is to investigate current disease management and quality of life (QoL) in PWHB in Spain and Portugal. Methods: Epidemiological, cross-sectional, multicenter study with moderately severe and severe PWHB. Sociodemographic, epidemiological, clinical, treatment, and QoL data were collected retrospectively over a 24-month period. Results: Of the 75 patients included in the study, 78.7% received prophylactic treatment and 21.3% on demand; 65.3% were treated with SHL-FIX and 10.7% with rIX-FP. Bleeding occurred in 81.3%, mainly in the form of spontaneous bleeding. Prophylaxis resulted in a lower annualized bleeding rate, better joint health, and better QoL, compared to on-demand treatments. Patients treated with rIX-FP throughout the study had better disease control and QoL than those treated with SHL-FIX. Conclusion: With the largest sample to date of PWHB from Spain and Portugal, our understanding of the management and impact of hemophilia B is broadened and, in accordance with previous evidence, it shows the benefits of prophylaxis and the advantages that the FIX extended half life products life FIX can offer.
- The Spectrum of Mutations and Molecular Pathogenesis of Hemophilia A in 181 Portuguese PatientsPublication . David, D; Ventura, C; Moreira, I; Diniz, MJ; Antunes, M; Tavares, A; Araújo, F; Morais, S; Campos, M; Lavinha, J; Kemball-Cook, GDisease-causing alterations within the F8 gene were identified in 177 hemophilia A families of Portuguese origin. The spectrum of non-inversion F8 mutations in 101 families included 67 different alterations, namely: 36 missense, 8 nonsense and 4 splice site mutations, as well as 19 insertions/deletions. Thirty-four of these mutations are novel. Molecular modeling allowed prediction of the conformational changes introduced by selected amino acid substitutions and their correlation with the patients' phenotypes. The relatively frequent, population-specific, missense mutations together with de novo alterations can lead to significant differences in the spectrum of F8 mutations among different populations.