RESUMO
INTRODUCTION: Low dose prophylaxis could be recommended in countries with limited resources. AIM: We report our single centre experience in children with haemophilia. PATIENTS: Fifty-five children were included in our study with a weekly median dose of 30 UI kg-1 given once, twice or thrice a week. Age of initiation of prophylaxis is 5.32 years (0.64-11.44). Outcome assessment used were number of bleeding before and after initiating prophylaxis, haemophilia joint health score (HJHS), functional independence score in haemophilia (FISH) and quality of life with the Haemo-QoL. RESULTS: Reduction of number of bleeding was clear in all patients; HJHS, FISH and Haemo-QOL were satisfactory. CONCLUSION: Low dose prophylaxis is effective and better than on-demand therapy. It should be the starting point for prophylaxis in countries with limited resources.
Assuntos
Hemofilia A/tratamento farmacológico , Adolescente , Criança , Feminino , Humanos , Masculino , TunísiaAssuntos
Transtornos da Coagulação Sanguínea/patologia , Sistema de Registros/estatística & dados numéricos , Adolescente , Adulto , Antifibrinolíticos/uso terapêutico , Transtornos da Coagulação Sanguínea/tratamento farmacológico , Inibidores dos Fatores de Coagulação Sanguínea/sangue , Criança , Pré-Escolar , Hemofilia A/tratamento farmacológico , Hemofilia A/patologia , Hemofilia B/tratamento farmacológico , Hemofilia B/patologia , Humanos , Lactente , Recém-Nascido , Masculino , Mutação , Tunísia , Adulto Jovem , Doenças de von Willebrand/tratamento farmacológico , Doenças de von Willebrand/patologiaRESUMO
Combined deficiency of coagulation factor V (FV) and factor VIII (FVIII) (F5F8D) is a rare autosomal recessive disorder characterized by mild-to-moderate bleeding and reduction in FV and FVIII levels in plasma. F5F8D is caused by mutations in one of two different genes, LMAN1 and MCFD2, which encode proteins that form a complex involved in the transport of FV and FVIII from the endoplasmic reticulum to the Golgi apparatus. Here, we report the identification of a novel mutation Asp89Asn in the MCFD2 gene in a Tunisian patient. In the encoded protein, this mutation causes substitution of a negatively charged aspartate, involved in several structurally important interactions, to an uncharged asparagine. To elucidate the structural effect of this mutation, we performed circular dichroism (CD) analysis of secondary structure and stability. In addition, CD analysis was performed on two missense mutations found in previously reported F5F8D patients. Our results show that all analysed mutant variants give rise to destabilized proteins and highlight the importance of a structurally intact and functional MCFD2 for the efficient secretion of coagulation factors V and VIII.