Avaliação do perfil clínico-terapêutico e da resposta à profilaxia dos portadores de hemofilia A e B em um centro de referência no Ceará / Evaluation of the clinical-therapeutic profile and the response to prophylaxis of patients with hemophilia A and B in a reference center in Ceará

Objetivo: Avaliar o perfil clínico-terapêutico e a resposta à profilaxia em pacientes hemofílicos A e B em um centro de referência no Ceará. Métodos: Estudo de coorte retrospectivo, com dados de 133 hemofílicos A e B, em profilaxia entre 2016 e 2021, por meio de prontuários médicos e sistema Web Coagulopatias. Resultados: Os pacientes todos do sexo masculino em sua maioria foram hemofílicos A (93,2%), na forma grave, residentes em Fortaleza, com maior prevalência do município de Guaiúba. A maioria fazia uso de Fator VIII recombinante e em profilaxia secundária, em relação ao comprometimento articular a maioria não apresentou relato de hemartroses (66,9%), articulação-alvo (87,9%) ou artropatia (54,9%), porém os hemofílicos em profilaxia terciária apresentaram um maior comprometimento articular em relação a profilaxia primária e secundária. Verificou-se uma correlação negativa entre o tempo de profilaxia e a dose de fator utilizada, demonstrando que quanto maior o tempo de profilaxia menor a dose do fator utilizada. Um total de 13 hemofílicos A grave desenvolveram inibidor de fator VIII realizando imunotolerância (ITI) com sucesso total em 84,6%. Por meio da curva ROC, foi verificado uma associação entre a necessidade de ITI e a dose de fator de coagulação, com acurácia de 67,7% de que o uso de doses maiores de fator predispõe ao desenvolvimento de inibidores. Conclusão: Os dados do estudo permitem inferir que quanto mais precoce o tratamento de profilaxia menor é comprometimento articular, dose do fator utilizada e menor predisposição de desenvolver inibidores dos fatores da coagulação.

Objective: to evaluate the clinical-therapeutic profile and response to prophylaxis in hemophiliac A and B patients at a referral center in Ceará. Methods: Retrospective cohort study, with data from 133 hemophiliacs A and B, undergoing prophylaxis between 2016 and 2021, using medical records and the Web Coagulopathies system. Results: Most of the patients were male patients with severe hemophilia A (93.2%), residing in Fortaleza, with a higher prevalence in the city of Guaiúba. Most made use of recombinant Factor VIII and in secondary prophylaxis, in relation to joint involvement, the majority did not report hemarthroses (66.9%), target joint (87.9%) or arthropathy (54.9%). however, hemophiliacs on tertiary prophylaxis showed greater joint impairment in relation to primary and secondary prophylaxis. There was a negative correlation between the prophylaxis time and the factor dose used, demonstrating that the longer the prophylaxis time, the lower the factor dose used. A total of 13 severe A hemophiliacs developed factor VIII inhibitor performing immunotolerance (ITI) with total success in 84.6%. Using the ROC curve, an association was verified between the need for ITI and the dose of coagulation factor, with an accuracy of 67.7% that the use of higher doses of factor predisposes to the development of inhibitors. Conclusion: The study data allow us to infer that the earlier the prophylaxis treatment, the less joint impairment, the dose of the factor used and the less predisposition to develop coagulation factor inhibitors.

Caracterización clinicoepidemiológica de pacientes con hemofilia congénita de tipos A y B en Santiago de Cuba / Clinical epidemiological characterization of patients with types A and B congenital hemophilia in Santiago de Cuba

Introducción: La hemofilia es una enfermedad de origen genético, ligada al cromosoma X, que afecta la capacidad natural de la sangre para formar un coágulo, debido a la ausencia, disminución o un defectuoso funcionamiento de los factores VIII y IX, de ahí los tipos A y B, respectivamente. Objetivo: Describir las características clínicas y epidemiológicas de pacientes con hemofilia congénita de tipos A y B en Santiago de Cuba. Método: Se realizó un estudio descriptivo y transversal de los 41 pacientes con hemofilia congénita de tipos A y B (en una población pediátrica y de adultos) atendidos en la consulta de trastornos hemostáticos del Hospital General Docente Dr. Juan Bruno Zayas Alfonso de Santiago de Cuba, desde noviembre de 2017 hasta diciembre de 2018. Resultados: En la serie predominaron los adultos jóvenes con hemofilia A (56,1 %), la hemofilia moderada (58,6 %), la lesión articular ligera (36,6 %), el crioprecipitado como tratamiento más utilizado y el nivel de escolaridad secundario. Conclusiones: La hemofilia A fue la más frecuente, en adultos jóvenes residentes en el municipio de Santiago de Cuba, principalmente la de tipo moderada y con artropatía leve. No se encontraron diferencias en relación con los informes nacionales e internacionales y el estudio de las alteraciones genéticas y moleculares estuvo limitado por las condiciones tecnológicas del momento.

Introduction: The hemophilia is a disease of genetic origin, linked to chromosome X that affects the natural capacity of the blood to form a clot, due to the absence, decrease or a defective operation of the factors VIII and IX, hence the types A and B, respectively. Objective: To describe the clinical and epidemiologic characteristics of patients with types A and B congenital hemophilia in Santiago de Cuba. Method: A descriptive and cross-sectional study of the 41 patients with types A and B congenital hemophilia (in a pediatric and adults population) assisted in the hemostatic disorders service of Dr. Juan Bruno Zayas Alfonso Teaching General Hospital in Santiago de Cuba, was carried out from November, 2017 to December, 2018. Results: In the series there was a prevalence of young adults with hemophilia A (56.1 %), moderate hemophilia (58.6 %), light articular lesion (36.6 %), the cryoprecipitate as the most used treatment and the secondary school level. Conclusions: The hemophilia A was the most frequent, in young adults residents in Santiago de Cuba municipality, mainly that of moderated type and with light arthropathy. There were no differences related to the national and international reports and the study of the genetic and molecular disorders was limited by the technological conditions of the moment.

Concepciones culturales de hemofilia en padres que son miembros de una asociación civil en México / Cultural conceptions on hemophilia in parents who are members of a civil association in Mexico

Introducción: La hemofilia es un padecimiento crónico y existen actividades que, en dependencia de la persona, pueden mejorar la salud del paciente. Para poder entender estas acciones se necesita un acercamiento a las concepciones culturales que tienen las familias sobre la hemofilia. Objetivo: Describir las concepciones culturales respecto a la hemofilia que tienen los padres con hijos que padecen esta enfermedad y radican en la República Mexicana. Métodos: Se realizó un estudio cualitativo de investigación antropología cognitiva. Se les aplicaron dos entrevistas estructuradas a 64 padres, que pertenecían a la asociación civil. Se buscaron significados de hemofilia a partir del uso de cinco palabras y después se identificó si existía o no consenso entre los participantes. Resultados: Las principales categorías que se derivaron de las dimensiones culturales fueron: consecuencias derivadas del padecimiento y cómo se vive. Las principales dimensiones culturales responsabilidad y vivir. Dentro de la responsabilidad se encontró lo que el tratamiento implica, lo que debe superar la persona, lo no deseado y lo que debe aprender. En la dimensión vivir estuvo la afectación familiar, las repercusiones, los temores, su realidad y los conocimientos. Conclusiones: Aunque los informantes viven en diferentes partes del país tienen un alto consenso cultural sobre la hemofilia, su percepción, en general, muestra un panorama adverso para sus hijos en el contexto mexicano en el que se encuentran. Sienten responsabilidad compartida con el personal de salud, lo que debe ser aprovechado para que, tanto médicos como personas con el padecimiento y sus familias aprendan sobre las limitaciones de los tratamientos, miedos, experiencias de vida y las oportunidades de medicamentos oportunos que se pueden tomar como alternativas para mejorar la atención y adherencia al tratamiento(AU)

Introduction: Hemophilia is a chronic condition and there are activities that, depending on the person, can improve the patient's health. To be able to understand these actions it is needed an approach to the cultural conceptions that families have about hemophilia. Objectives: Describe the cultural conceptions regarding hemophilia that parents have with children who suffer from this disease and reside in the Mexican Republic. Methods: A qualitative study of cognitive anthropology research was conducted. Two structured interviews were applied to 64 parents, who belonged to the civil association. Hemophilia meanings were sought from the use of five words and then it was identified if existed or not consensus among participants. Results: The main categories that derived from cultural dimensions were: consequences derived from the condition and how it is lived. The main cultural dimensions were responsibility and living. Within responsibility it was found what the treatment implies, what the person must overcome, the unwanted and what the person must learn. In the living dimension were family affectation, repercussions, fears, reality and knowledge. Conclusions: Although informants live in different parts of the country, they have a high cultural consensus on hemophilia; their perception generally shows an adverse picture for their children in the Mexican context in which they find themselves. They feel shared responsibility with the health personnel, which should be leveraged so that both doctors and people with the condition and their families learn about treatment limitations, fears, life experiences and timely drugs that can be taken as alternatives to improve the care and adherence to treatment(AU)

Epidemiological characteristics of hemophilia in the pre-primary prophylaxis era: a historical cohort

Introduction: Epidemiological studies on hemophilia in the Brazilian population are historically scarce. Despite the continuous effort made by the National Program of Inherited Bleeding Disorders to map this condition, little information is available, especially on the period prior to program conception. Therefore, the present study aims to assess the epidemiological, serological, and clinical characteristics of patients with hemophilia in the state of Rio Grande do Sul, Brazil. Methods: A total of 455 patients had their medical records reviewed from January 1, 2003 to December 31, 2007. Results: We observed a remarkable prevalence of hepatitis C virus (HCV) infection in patients with both hemophilia A and B, and this prevalence significantly increased along with age (p < 0.001). No positive anti-HCV results were observed among children younger than 5 years old. There was a significant correlation between the severity of hemophilia and the number of arthropathies in all age categories. Considering the presence of inhibitors, a significant difference was observed between age groups, as older patients had higher inhibitor titers. There was a significant correlation between mean coagulation factor consumption and the number of arthropathies in patients over 5 years old. Conclusions: This profile analysis of patients with hemophilia reflects a gradual improvement in treatment safety and efficiency, as well as the need for continued investment in this population. (AU)

Hemofilia adquirida / Acquired hemophilia

Resumen La hemofilia adquirida (HA) es un trastorno hemostático autoinmune ocasionado por autoanticuerpos dirigidos contra el factor VIII: C. En 52 % de los casos, la causa se desconoce o no se asocia con otra entidad patológica; en el resto, existen factores concomitantes: lupus, artritis reumatoide, cáncer, embarazo y medicamentos. En México no existe registro ni conciencia de la enfermedad entre el personal de salud. Los grupos de mayor incidencia son las mujeres en edad reproductiva y los individuos mayores de 70 años. Se caracteriza por hemorragia grave, sobre todo posterior a traumatismos y parto o cesárea, y equimosis grandes en tronco y extremidades. La sospecha es simple, basta que concurran hemorragia súbita, grave y un TTPa prolongado que no se corrige con plasma. El tratamiento consiste en lograr la hemostasia y erradicar el anticuerpo; lo primero se logra con el factor VII activado recombinante o concentrado del complejo de protrombínico activado. La ciclofosfamida, prednisona o rituximab sirven para erradicar el anticuerpo. La mayoría de los casos no son diagnosticados y la mortalidad es alta. Ya que los médicos desconocen el problema, no se sospecha, no se diagnostica y no se trata. Este documento revisa los datos más recientes de la HA y abunda en el diagnóstico y tratamiento.

Abstract Acquired hemophilia (AH) is an autoimmune hemostatic disorder mediated by autoantibodies directed against factor VIII: C. In 52% of cases, the cause is unknown or is not associated with other pathological entities; in the rest, there are concomitant factors: lupus, rheumatoid arthritis, cancer, pregnancy, and medications. In Mexico, there is not a registry of AH, and awareness of the disease among health personnel is low. The groups with the highest incidence are women of childbearing age and individuals older than 70 years. It is characterized by severe bleeding, especially after trauma and normal childbirth or cesarean delivery, and large ecchymoses in the trunk and extremities. The suspicion is simple, it just takes for sudden, severe hemorrhage and a prolonged activated partial thromboplastin time that is not corrected with plasma to concur in an individual. Treatment involves achieving hemostasis and eradicating the antibody. The former is achieved with recombinant activated factor VII or activated prothrombin complex concentrate. Cyclophosphamide, prednisone or rituximab are used to eradicate the antibody. Most cases of AH are not diagnosed, which translates into a high mortality rate. Given that awareness about the disease among physicians is low, it is not suspected, neither diagnosed, and nor is it treated. This document reviews the most recent data on AH and expands on its diagnosis and treatment.

El paciente hemofílico: consideraciones clínicas y moleculares de importancia para el odontólogo / Hemophilic patients: clinical and molecular considerations of interest to dentists

RESUMEN Introducción: La hemofilia es una enfermedad genética poco frecuente en la consulta odontológica. En algunas situaciones se presenta como una urgencia odonto-estomatológica, en la que el profesional debe relacionar las manifestaciones clínicas generales de la enfermedad, con una correcta semiología, paraclínicos y análisis genético-molecular, para diagnosticar y aplicar pertinentes terapéuticas dirigidas a resolver el motivo de consulta del paciente así como el manejo y control de sus complicaciones. Objetivo: Describir los principales aspectos fisiopatológicos generales y de importancia odontológica de la hemofilia, así como las herramientas diagnósticas desde el punto de vista clínico, paraclínico y genético-molecular. Métodos: Búsqueda bibliográfica en las bases de datos Pubmed, Proquest, Scielo y Elsevier, en idioma inglés y español, en las que se seleccionaron artículos publicados en un periodo de 13 años para un total de 50 (2005-2018), empleando los descriptores "hemophilia A, hemophilia B, diagnostic criteria, genetic, molecular, oral health, clinical diagnosis". Análisis e integración de la información: Los estudios han demostrado que la hemofilia, una condición genética y sistémica, tiene repercusiones bucales en el contexto de sus manifestaciones y complicaciones, lo que la hace importante para el odontólogo, debido a que debe ser diagnosticada desde el punto de vista genético-molecular y manejada interdisciplinariamente. Conclusiones: La implicación del diagnóstico genético-molecular por parte del genetista soporta la integración del hematólogo y el odontólogo para el manejo y control de la interconsulta cuando se trata de pautar procedimientos en pacientes con hemofilia(AU)

ABSTRACT Introduction: Hemophilia is a genetic disease scarcely found in dental practice. On occasion it presents as a dental emergency in face of which the professional should relate the general clinical manifestations of the disease to an appropriate semiological, paraclinical and genetic-molecular analysis to diagnose the condition and apply relevant therapies aimed at solving the patient's main concern as well as managing and controlling its complications. Objective: Describe the main general pathophysiological features and aspects of dental interest of hemophilia, as well as the diagnostic tools related to the condition from a clinical, paraclinical and genetic-molecular perspective. Methods: A bibliographic search was conducted in the databases Pubmed, Proquest, Scielo and Elsevier of papers published in English and Spanish in a period of 13 years (2005-2018), using the search terms "hemophilia A", "hemophilia B", "diagnostic criteria", "genetic", "molecular", "oral health", "clinical diagnosis". A total 50 papers were selected. Data analysis and integration: Studies have shown that hemophilia, a genetic systemic condition, may have oral manifestations and complications. This makes it important to dentists, since the disease should be diagnosed from a genetic-molecular point of view and managed in an interdisciplinary manner. Conclusions: Genetic-molecular diagnosis by geneticists implies involvement of hematologists and dentists in the management and control of the condition via interconsultation, when it comes to deciding on procedures for hemophilic patients(AU)

Avaliação da Qualidade de vida relacionada à saúde em pacientes com hemofilias A e B atendidos na Fundação Hemominas – Minas Gerais, Brasil

De maneira geral, estudos demonstram o impacto negativo da hemofilia na qualidade de vida relacionada à saúde (QVRS), mas esse aspecto é pouco explorado nos países em desenvolvimento, incluindo o Brasil. O presente trabalho, de delineamento transversal, teve por objetivo avaliar a QVRS e seus fatores associados em pacientes hemofílicos adultos (18 anos e mais), atendidos em oito das 21 unidades da Fundação Hemominas (FH), centro de referência para o atendimento dessa doença no estado de Minas Gerais, Brasil. O estudo foi aprovado pelo Comitê de Ética da FH e todos os participantes assinaram o termo de consentimento livre e esclarecido. Utilizou-se o instrumento específico Haem-a-Qol para coletar os dados sobre QVRS, além de questionário sociodemográfico e consulta aos prontuários. A análise estatística foi realizada por regressão logística ordinal (modelo de odds proporcionais), para cada domínio da QVRS, e o escore foi dividido em tercis.

Foram abordados todos os pacientes que compareceram aos ambulatórios, no período de coleta de dados (agosto/2011 a julho/2012), totalizando 175 participantes, 147 com hemofilia A e 28 com hemofilia B. A idade dos entrevistados variou entre 18 e 68 anos cuja maioria era de não brancos (61,9%), não casados (59,4%), com escolaridade superior a nove anos (81,9%). O escore total do Haem-a-QoL, que varia de 0 a 100, teve mediana de 36,96, com pior desempenho no domínio “Esporte e Lazer” e melhor no domínio “Relacionamentos e Sexualidade”. De maneira geral, a QVRS mostrou-se pior entre os mais velhos, com menor escolaridade, não brancos, que não trabalhavam, foram internados no último ano, não realizaram uma consulta médica e entre aqueles com maior número de articulações afetadas. Além disso, a presença de hepatite B piora o domínio “Esportes/Lazer”; entre os casados há também pior desempenho em “Esportes e Lazer”, mas melhor desempenho no que se refere a “Maneiras de lidar” com a doença. Pacientes com hemofilia do tipo B têm mais chance de reportar pior QVRS no domínio “Autopercepção”. Os resultados observados podem subsidiar o desenvolvimento de programas que atendam especificamente os grupos mais vulneráveis, visando à melhoria da qualidade de vida desses pacientes, o que pode ter repercussão em todo o sistema de atenção à saúde.

Avaliação da Qualidade de vida relacionada à saúde em pacientes com hemofilias A e B atendidos na Fundação Hemominas – Minas Gerais, Brasil / Quality of life assessment related to health in patients with hemophilia A and B treated at Hemominas Foundation - Minas Gerais, Brazil

De maneira geral, estudos demonstram o impacto negativo da hemofilia na qualidade de vida relacionada à saúde (QVRS), mas esse aspecto é pouco explorado nos países em desenvolvimento, incluindo o Brasil. O presente trabalho, de delineamento transversal, teve por objetivo avaliar a QVRS e seus fatores associados em pacientes hemofílicos adultos (18 anos e mais), atendidos em oito das 21 unidades da Fundação Hemominas (FH), centro de referência para o atendimento dessa doença no estado de Minas Gerais, Brasil. O estudo foi aprovado pelo Comitê de Ética da FH e todos os participantes assinaram o termo de consentimento livre e esclarecido. Utilizou-se o instrumento específico Haem-a-Qol para coletar os dados sobre QVRS, além de questionário sociodemográfico e consulta aos prontuários. A análise estatística foi realizada por regressão logística ordinal (modelo de odds proporcionais), para cada domínio da QVRS, e o escore foi dividido em tercis...

Foram abordados todos os pacientes que compareceram aos ambulatórios, no período de coleta de dados (agosto/2011 a julho/2012), totalizando 175 participantes, 147 com hemofilia A e 28 com hemofilia B. A idade dos entrevistados variou entre 18 e 68 anos cuja maioria era de não brancos (61,9%), não casados (59,4%), com escolaridade superior a nove anos (81,9%). O escore total do Haem-a-QoL, que varia de 0 a 100, teve mediana de 36,96, com pior desempenho no domínio “Esporte e Lazer” e melhor no domínio “Relacionamentos e Sexualidade”. De maneira geral, a QVRS mostrou-se pior entre os mais velhos, com menor escolaridade, não brancos, que não trabalhavam, foram internados no último ano, não realizaram uma consulta médica e entre aqueles com maior número de articulações afetadas. Além disso, a presença de hepatite B piora o domínio “Esportes/Lazer”; entre os casados há também pior desempenho em “Esportes e Lazer”, mas melhor desempenho no que se refere a “Maneiras de lidar” com a doença. Pacientes com hemofilia do tipo B têm mais chance de reportar pior QVRS no domínio “Autopercepção”. Os resultados observados podem subsidiar o desenvolvimento de programas que atendam especificamente os grupos mais vulneráveis, visando à melhoria da qualidade de vida desses pacientes, o que pode ter repercussão em todo o sistema de atenção à saúde...

Prevalencia de hemofilia en seis provincias cubanas / Prevalence of hemophilia in six cuban provinces

Introducción:la hemofilia es una enfermedad hemorrágica con una incidencia casi constante para diferentes poblaciones. Desde la década del 80 del pasado siglo, en el Instituto de Hematología e Inmunología se creó un grupo multidisciplinario de especialistas para la atención del paciente con hemofilia. En la actualidad existe un programa nacional de atención integral al hemofílico que permite el monitoreo continuo y el tratamiento adecuado. Objetivo: conocerla prevalencia de la hemofilia en Cuba. Métodos:se incluyeron los datos de 229 pacientes procedentes de 5 provincias cubanas y el municipio especial Isla de la Juventud (según la división política-administrativa previa), que representan el 58,1 por ciento de los pacientes registrados. Los datos incluyeron aspectos demográficos, gravedad de la enfermedad, presencia de inhibidores y de infecciones transmitidas por las transfusiones. Resultados: los pacientes con hemofilia A fueron 188 (82,10 por ciento) y 41 (17,90 por ciento) con hemofilia B. El 56,33 por ciento de los pacientes presentaron la enfermedad en forma severa, 24 por ciento moderada y 19,7 por ciento leve. Los inhibidores se encontraron en el 17,03 por ciento de los casos. La infección por el virus de inmunodeficiencia humana estuvo presente solamente e el 0,87 por ciento de los pacientes, y la hepatitis C en el 39,03 por ciento. La edad media al diagnóstico fue de 2.15 años. Conclusiones: la prevalencia general ajustada a la edad fue de 9,63 casos de hemofilia por 100 000 varones y la mayor prevalencia de pacientes se encontró en las edades entre 20 y 59 años

Introduction: hemophilia is an inherited bleeding disorder; its incidence is almost constant in different populations. Since the 80th decade a multidisciplinary group for the care of patients with hemophilia was created at the Instituto de Hematología e Inmunología. Nowadays a national comprehensive care program allows patients to receive a continuous monitoring and an effective treatment. Objective: to know prevalence of patients with hemophilia in Cuba. Results: data of 229 patients from 5 provinces and the special municipality Isla de la Juventud were included, which covered 58,71 percent of the total patients registered in Cuba. The information included demographic data, severity of hemophilia, presence of inhibitors and infection status for viral diseases. Hemophilia A patients were 188 (82.10 percent) and 41 (17.90 percent) with hemophilia B. The disease was severe in 56.33 percent of patients, moderate in 24 percent, and mild in 19.7percent . Inhibitors were present in 17.03 percent of the patient percents. Human immunodeficiency virus infection was present only in 0.87 percent of patients and hepatitis C virus infection in 39.03 percent. The mean age at diagnosis was 2.15 years. Conclusions: the general age-adjusted prevalence was 9.63 cases of hemophilia per 100 000 male and the main prevalence of patients was found in ages between 20 and 59 years

Endodontic Treatment in a Patient with Hemophilia A: Case Report with Literature Review.

Hemophilia comprises a group of hereditary disorders caused due to the defi ciency of one or more clotting factors leading to prolonged clotting time and excessive bleeding tendencies. It is broadly divided into Hemophilia A, B and C which occur due to defi ciency of factors VIII, IX or XI (F VIII, F IX, F XI) respectively. Hemophilia A is an X linked recessive hereditary disorder and is the most common of the three, accounting for 80-85% of the cases. Understanding this complex entity is very important for a dentist to provide appropriate dental treatment and to avoid undesirable consequences. Th e aim of this article is to report a case of Hemophilia A with literature review highlighting the importance of restorative treatment in salvaging the teeth and preventing complications anticipated from the surgical procedures.

Intervenciones de enfermería en la atención pediátrica de la hemofilia / Nursing interventions in pediatric hemophilia care

Introducción: La hemofilia es una enfermedad crónica, específicamente un trastorno de la coagulación de la sangre que causa hemartrosis y sangrado prolongado espontáneo (Murillo, 2008). La patología requiere un abordaje integral en donde el papel del profesional de enfermería es satisfacer las necesidades biopsicosociales del paciente pediátrico con este problema de salud. Método: La búsqueda sistemática de información se enfocó a documentos obtenidos acerca de la temática de intervenciones de enfermería y hemofilia en pacientes pediátricos. Se utilizaron 22 documentos para la elaboración de esta guía. Resultados: Las principales intervenciones de enfermería en el paciente pediátrico con hemofilia son: ministración del Factor VIII o IX según prescripción, control de la hemorragia, manejo del dolor, inmovilización, aplicación de frio, identificación de riesgos, monitorización de extremidades inferiores, apoyo emocional y enseñanza de los procedimientos y tratamientos. Conclusiones: La valoración de enfermería en pacientes con hemofilia se centra en las respuestas humanas (Dolor, limitación del movimiento, temor, angustia y ansiedad) y en las respuestas fisiológicas (Edema, hematomas, hemorragias internas y externas)

Background: Hemophilia is a chronic disease, specifically a disorder of blood clotting and prolonged bleeding hemarthrosis cause spontaneous (Murillo, 2008). The disease requires a comprehensive approach where the role of the nurse is to meet the biopsychosocial needs of pediatric patients with this health problem.Method: A systematic search of information obtained documents focused on the theme of nursing interventions and pediatric hemophilia patients. 22 documents for the development of this guide were used.Results: The main nursing interventions in pediatric patients with hemophilia are: ministry of Factor VIII or IX as prescribed, control of bleeding, pain management, immobilization, application of cold, risk identification, monitoring lower extremities, emotional support and teaching procedures and treatments.Conclusions: Nursing assessment in patients with hemophilia focuses on human responses (pain, limitation of movement, fear, anguish and anxiety) and physiological responses (edema, bruising, internal and external bleeding).

Introdução: A hemofilia é uma doença crônica, especificamente um distúrbio da coagulação do sangue, que causa hemartrose e sangramento prolongado espontâneo (Murillo, 2008). A doença requer uma abordagem integral onde o papel do enfermeiro é satisfazer as necessidades biopsicossociais do paciente pediátrico com este problema de saúde.Método: A pesquisa sistemática de informação foi enfocada em documentos obtidos sobre o tema das intervenções de enfermagem e hemofilia em pacientes pediátricos. Foram utilizados 22 documentos para o desenvolvimento deste guia.Resultados: As principais intervenções de enfermagem no paciente pediátrico com hemofilia são: ministração de Fator VIII ou IX, conforme prescrito, controle da hemorragia e dor, imobilização, aplicação de frio, identificação de riscos, monitoramento de extremidades inferiores, apoio emocional e ensino de procedimentos e tratamentos.Conclusões: A avaliação de enfermagem em pacientes com hemofilia concentra-se nas respostas humanas (dor, limitação de movimento, medo, angústia e ansiedade) e nas respostas fisiológicas (edema, hematomas, hemorragias internas e externas).

Resultados de operación acceso y del Programa Nacional de Hemostasia y Trombosis / The results of operation access and the National Hemostasis and Thrombosis Program

En el decenio que va desde 1996 hasta 2006, se establecieron en Chile las políticas sanitarias programáticas que se hicieron cargo de la dramática situación que vivían hasta ese momento las personas afectadas de hemofilia. En dicho período fue fundamental la implementación de la Operación Acceso y del Programa Nacional de Hemostasia y Trombosis, ambos a cargo del Ministerio de Salud con el apoyo de la Sociedad Chilena de la Hemofilia y de la Facultad de Medicina de la Universidad de Chile. Este proceso trajo aparejado además la sistematización en cuanto a registro de casos, un avance cualitativo y cuantitativo en cuanto al acceso a tratamientos, así como a medicamentos seguros, efectivos y oportunos para la comunidad hemofílica del país con independencia de su sistema previsional. El artículo anterior de esta serie describe los programas, y este los resultados en el mencionado período.

During the time span going from 1996 to 2006 the healthcare policies that address hemophilic patient’s dramatic needs were set up in Chile. Operation Access and the National Hemostasis and Thrombosis Program were implemented, both in charge of the Ministry of Health, with the support of the Chilean Society of Hemophilia and the School of Medicine of the University of Chile. The process was coupled with the systematization of case registries, a qualitative and quantitative advance in access to treatment options, including timely access to safe and effective medications, regardless of the health insurance system to which patients belonged. The previous article of this series describes both programs, while the present article describes the results in that the ten-year period.

Hemofilia en Chile: 1996-2006 / Hemophilia in Chile, 1996-2006

Esta publicación describe el proceso que vivió Chile entre 1996 y 2006, en que se inicia el período de organización planificada y sistemática que comienza a resolver los graves problemas sanitarios que caracterizaban la condición de estar afectado por hemofilia. El artículo reporta una visión general de la situación de la hemofilia en Chile en aquella época, incluyendo las falencias de información sanitaria, de opciones de tratamiento, de formación de especialistas en el tema, y de generación de respuestas al problema desde los sistemas sanitarios. A continuación, el artículo describe en rasgos generales los principales lineamientos del programa Operación Acceso y del Programa Nacional de Hemostasia y Trombosis, cuyos resultados serán comunicados en el segundo artículo de esta serie.

This article describes the process that Chile underwent from 1996 to 2006, which is the dawn of a period of planned and systematic organization that begins to solve the severe health problems that afflict patients with hemophilia. The article reports a general overview of the situation of hemophilia in Chile in that period – up to 2006 - , including the lack of reliable data, treatment options, training of specialists on the topic and healthcare system responses. The article then goes on to describe in general terms the main aspects of Operation Access and the National Hemostasis and Thrombosis Program, the results of which will be described in a subsequent article of this series.

Combined factor V and VIII deficiency

This review summarizes current data on the pathomechanisms and new genetic findings of combined factor V and VIII deficiency [CF5F8D]. Congenital haemorrhagic disorders characterized by deficiency of two clotting factors comprise an interesting group. Among dual coagulation disorders, CF5F8D is the most common type. For the first time combined factor V and VIII deficiency [F5F8D] was reported by Oeri et al in 1954. That is distinct from the coinheritance of both FV deficiency [parahaemophilia] and FVIII deficiency [haemophilia A] that has been reported in four families. Individuals who present with this phenotype have between 5 and 30% of normal plasma levels of FV and FVIII antigen and activity, whereas the level of other plasma proteins are not altered. Total numbers of affected individuals are less than 150 cases all over the world. At first it was assumed that deficiency of protein C inhibitor was a responsible cause, but further investigations revealed that it was due to mutations called ERGIC-53 and LMAN-1

Uso del Coagulite en el paciente hemofílico bajo tratamiento odontológico / Use of Coagulite in the hemophilic patient undergoing dental treatment

La hemofilia es una enfermedad hereditaria que afecta principalmente al hombre, en donde la mujer es portadora; su principal manifestación es la hemorragia. Este tipo de pacientes representan un riesgo para la atención estomatológica por las hemorragias que presentan en los procedimientos quirúrgicos, por lo que es necesario el uso de fibrinas adhesivas como el coagulite. Se presenta un estudio en pacientes hemofílicos del Centro Médico Nacional Siglo XXI que recibieron atención estomatológica con coagulite como auxiliar en el control de hemorragias.

National survey of patients with hemophilia and other congenital bleeding disorders in Thailand.

A national survey of patients with hemophilia and other congenital bleeding disorders in Thailand was conducted in the years 2000 to 2002. Questionnaires were sent to physicians working at hospitals throughout the country. Although the overall response rate to the questionnaires was 19%, the two highest rates of 80% and 73.7% were found at university and regional hospitals, respectively, where most of the patients received their diagnosis and treatment. A total of 1,450 patients comprised of hemophilia 1,325 cases, von Willebrand disease, 69 cases, congenital factor VII deficiency, 15 cases, hereditary platelet dysfunction, 22 cases, and undefined causes of congenital bleeding disorders, 19 cases. Most were pediatric patients <15 years of age. Treatment was mainly given on demand for a bleeding episode, while only 8.6% received additional home treatment for early bleeding episodes. Replacement therapy primarily relied on fresh frozen plasma, cryoprecipitate and cryo-removed plasma. Factor concentrate was seldom used because of the high price. As a result, hemophilia care services in Thailand should be strengthened by providing comprehensive education for medical personnel, making available simple laboratory kits to determine hemophilia A and B, ensuring an adequate supply of blood components and affordable factor concentrate, and establishing home care treatment.

Hemophilia care in the state of Rio de Janeiro, Brazil

In the developing countries of the world, few people with hemophilia receive adequate care. Nevertheless, Brazil has made significant advances in the treatment of hemophilia over the last decade. The provision of factor concentrates imported by the Government of Brazil is gradually increasing, and patients receive the concentrates for free. A national register was established as well as a coordinated program for comprehensive care. Of the 6 297 persons with hemophilia in Brazil who were registered as of January 2001, 689 of them (11.1 percent) were registered in the state of Rio de Janeiro. Of those 689, 664 of them were being monitored at the state's coordinating blood transfusion center, which is located in the city of Rio de Janeiro. Among those 664, factor VIII inhibitors were identified in 81 of them (12.2 percent). Among 653 of the Rio de Janeiro patients who were tested for transfusion-transmitted diseases, the overall prevalence found was 41.5 percent, with the specific rates being 13.3 percent for human immunodeficiency virus (HIV), 2.9 percent for hepatitis B virus (HBV), and 39.4 percent for hepatitis C virus (HCV). The state of Rio de Janeiro has adopted a comprehensive hemophilia management approach that includes medical, psychological, and social care. As a result, the quality of life of hemophilia patients has improved noticeably. For example, the rate of hospitalization among patients fell by 30 percent between 1998 and 2001, and there has also been a decline in the school and work activities that they have missed