ABSTRACT
Introduction. Comme pour toutes les maladies rares ou maladies orphelines, l'étude des thrombopathies devrait être multicentrique pour recenser le maximum ou tous les patients dans une région ou dans le pays concerné. Notre étude a pour objectif d'évaluer la prévalence des thrombopathies constitutionnelles dans l'Ouest Algérien, et décrire ainsi les caractéristiques épidémiologiques de notre population. Patients et méthodes. Il s'agit d'une étude descriptive régionale du profil épidémiologique de 61 patients de l'Ouest Algérien présentant une thrombopathie constitutionnelle. Résultats. Dans notre étude a trouvé 34 thrombasthénies de Glanzmann (TG), 18thrombopathies de Jean Bernard Soulier (JBS), 08thrombopathies de May-Hegglin (MH) et un syndrome de Scott avec une prévalence globale de 1,8/1 million habitants. Conclusion. Notre travail nous a permis d'avoir un contexte global sur les thrombopathies constitutionnelles qui serait sans doute la base d'autres études de caractère clinique, biologique ou même moléculaire surtout en matière de recrutement de patients.
Introduction. As with all rare or orphan diseases, the study of inherited platelet disorders should be multicentric to identify as many or as few patients as possible in a given region or country. The aim of our study is to evaluate the prevalence of inherited platelet disorders in Western Algeria, and thus describe the epidemiological characteristics of our population. Patients and methods. This is a regional descriptive study of the epidemiological profile of 61 patients in Western Algeria with inherited platelet disorders. Results. In our study we found 34 Glanzmann thrombasthenias (TG), 18 Jean Bernard Soulier thrombopathies (JBS), 08 May-Hegglin thrombopathies (MH) and one Scott syndrome with an overall prevalence of 1.8/1 million inhabitants. Conclusion. Our work has allowed us to have a global context on inherited platelet disorders which would undoubtedly be the basis of other studies of clinical, biological or even molecular character especially in terms of patient recruitment.
Subject(s)
Blood Platelet Disorders , Thrombasthenia , Epidemiology , Bernard-Soulier Syndrome , Blood Coagulation Disorders, InheritedABSTRACT
Background. Optimal care of patients with inherited bleeding disorders requires that bleeding episodes are treated early, or still better prevented, through extension of patient care beyond hospital-based treatment to home-based therapy. In South Africa (SA), adoption of home therapy is variable, in part owing to lack of consensus among healthcare providers on what constitutes home therapy, which patients should be candidates for it, how it should be monitored, and what the barriers to home therapy are.Objectives. To conduct a modified Delphi process in order to establish consensus on home therapy among haemophilia healthcare providers in SA.Methods. Treaters experienced in haemophilia care were invited to participate in a consensus-seeking process conducted in three rounds. In round 1, provisional statements around home therapy were formulated as questions and collated in a structured list. In rounds 2 and 3, evolving versions of the questionnaire were administered to participants. Consensus was defined as â¥70% agreement among the participants.Results. The panel composition included an equal number of physicians and non-physicians. The participation rate was 100% through all three consensus rounds. The group reached consensus for 92% of the statements. Consensus of 100% was reached on starting home therapy in paediatric patients, requiring all patients on home therapy to sign informed consent and indemnity, and providing round-the-clock support for patients on home therapy.Conclusions. The home therapy consensus statements in this report have the potential to translate to policy on home therapy and to guide the initiation, practice and evaluation of home therapy programmes in SA