Escores de Risco Cardiovascular entre Adultos Assintomáticos com Hemofilia / Cardiovascular Risk Scores among Asymptomatic Adults with Haemophilia

Resumo Fundamento A taxa de mortalidade de pessoas com hemofilia (PCH) no Brasil está diminuindo, mas a incidência relativa de mortes associadas a doenças cardiovasculares (DCV) tem aumentado. Objetivos Nosso objetivo foi descrever o escore de risco de DCV de PCHs de acordo com a ferramenta Pooled Cohort Equations Risk (PCER) Calculator e suas recomendações de tratamento. Além disso, foram comparadas as estimativas da PCER com o respectivo escore de risco de Framingham (FRS). Métodos Este estudo transversal incluiu PCHs do sexo masculino, com idade igual ou superior a 40 anos, tratados no Centro de Tratamento Integral de Hemofilia de Pernambuco (Recife/Brasil). PCHs com um evento cardiovascular prévio ou colesterol lipídico de baixa densidade ≥ 5,0 mmol/L foram excluídas. Entrevistas, revisões de prontuários médicos e exames de sangue foram realizados. A ferramenta PCER foi utilizada para estimar o risco de DCV e compará-lo com o respectivo FRS. Um valor de p < 0,05 foi aceito como estatisticamente significativo. Resultados Trinta PCHs foram incluídas. A idade mediana foi de 51,5 [intervalo interquartil-IIQ; 46,0-59,5] anos. A prevalência de obesidade, hipertensão arterial sistêmica, diabetes mellitus, hipertrigliceridemia, hipercolesterolemia e hipoHDLemia foi de 20%, 67%, 24%, 14%, 47% e 23%, respectivamente. O escore mediano da PCER foi de 6,9% [IIQ; 3,1-13,2], com 50% de alto risco (PCER ≥ 7,5%). O uso de estatina foi sugerido para 54% das PCHs. A pressão arterial estava mal controlada em 47% das PCHs. A concordância entre PCER e FRS foi de 80% (κ = 0,60; p = 0,001). Conclusões Metade dos homens com hemofilia, com 40 anos de idade ou mais, teve um alto risco de desenvolver DCV em 10 anos, com fortes recomendações para melhorar o controle da dislipidemia e da pressão arterial.

Abstract Background The mortality rate of Brazilian people with haemophilia (PwH) is decreasing, but the relative incidence of deaths associated with cardiovascular disease (CVD) is increasing. Objectives We aimed to describe the CVD risk score of PwH according to Pooled Cohort Equations Risk (PCER) Calculator tool and its treatment recommendations. We also compared the PCER estimates with the respective Framingham Risk Score (FRS). Methods This cross-sectional study included male PwH ≥ 40 years treated at the Comprehensive Haemophilia Treatment Centre of Pernambuco (Recife/Brazil). PwH with a previous CVD event or a low-density lipid cholesterol ≥ 5.0 mmol/L were excluded. Interviews, medical file reviews, and blood tests were performed. The PCER tool was used to estimate the CVD risk and compare it with the respective FRS. A p-value < 0.05 was accepted as statistically significant. Results Thirty PwH were included. Median age was 51.5 [interquartile range-IQR; 46.0-59.5] years. The prevalence of obesity, systemic arterial hypertension, diabetes mellitus, hypertriglyceridaemia, hypercholesterolaemia, and hypoHDLaemia were 20%, 67%, 24%, 14%, 47%, and 23%, respectively. The median PCER score was 6.9% [IQR; 3.1-13.2], with 50% having a high risk (PCER ≥ 7.5%). Statin use was suggested for 54% of PwH. Blood pressure was poorly controlled in 47% of PwH. The agreement between PCER and FRS was 80% (κ = 0.60; p = 0.001). Conclusions Half of the male people with haemophilia aged 40 years or older had a 10-year high risk of developing CVD with strong recommendations to improve control of dyslipidaemia and blood pressure.

Prophylaxis in hemophilia

Hemophilia is an inherited X-linked coagulopathy defined by a deficiency or abnormality in the clotting function of factor VIII (Hemophilia A) or factor IX (Hemophilia B). Prophylaxis ­ the regular administration of therapeutic products to maintain hemostasis and prevent bleeding ­ is the mainstream of treatment. Addressing the development and scientific evidence for administrating prophylaxis is the goal of this review. Prophylaxis is the therapeutic modality of choice for people with severe hemophilia, being considered, in principle, a lifelong treatment. It should have an early onset, ideally as a primary, or at least secondary. Even lifelong tertiary prophylaxis seems to offer benefit, although further studies are still lacking. Individualized strategies should lead to an optimization of the dilemma between better joint outcomes versus involved costs.

Hemophilia: a biography on therapeutical approaches

The history of hemophilia is ancient, with descriptions dated to the 2nd century AD. The first modern narratives appeared in 1800s, when total blood transfusion was the only available treatment and life expectancy was remarkably low. Advances occurred with the use of plasma and cryoprecipitate, but only the discovered of factor concentrates revolutionized the treatment. The implantation of prophylaxis allowed hemophilic patients to prevent bleeding and the development of chronic arthropathy, although with a significant burdensome with the regular infusions. In the past 20 years, this field has witnessed major improvements, including the development of gene therapy and other pharmacological approaches.

Calidad de vida relacionada con la salud de personas con hemofilia en el noreste de Brasil / Quality of life related to the health of people with hemophilia in Northeast Brazil

Introducción: La hemofilia se caracteriza por la ocurrencia de hemorragias frecuentes y afecciones del aparato locomotor graves en los pacientes que causan daños físicos, sociales y psicológicos y afecta directamente su calidad de vida relacionada con la salud. Objetivo: Evaluar la calidad de vida de personas con hemofilia en el noreste de Brasil. Métodos: Estudio epidemiológico transversal cuantitativo realizado con 13 personas con hemofilia de un Banco de Sangre en el noreste de Brasil. La recolección de datos se realizó mediante la aplicación de un cuestionario sociodemográfico y clínico y de Haem-A-Qol, utilizado para evaluar la calidad de vida de las personas con hemofilia. Los valores brutos y medios se calcularon en general para todos los dominios y luego para cada dominio para que pudieran mostrarse. Resultados: Se obtuvo un promedio total de 30,94 en relación a los diez dominios evaluados. Los dominios con los promedios más altos fueron "salud física" con 49,23 y "afrontamiento" con 35,89 y con el promedio más bajo fue "planificación familiar". Conclusiones: Los participantes de la investigación tienen una calidad de vida insatisfactoria en relación con la salud física y el afrontamiento y, satisfactoria en relación con las relaciones y la sexualidad(AU)

Introduction: Hemophilia is characterized by the occurrence of frequent bleeding and serious musculoskeletal conditions in patients that cause physical, social and psychological damage and directly affect their health-related quality of life. Objective: To evaluate the quality of life of people with hemophilia in the northeast of Brazil. Methods: Quantitative cross-sectional epidemiological study conducted with 13 people with hemophilia from a Blood Bank in northeastern Brazil. Data collection was performed by applying a sociodemographic and clinical questionnaire and Haem-A-Qol, used to assess the quality of life of people with hemophilia. Raw and mean values were calculated overall for all domains and then for each domain so that they could be displayed. Results: A total average of 30,94 was obtained in relation to the ten domains evaluated. The domains with the highest averages were "physical health" with 49,23 and "coping" with 35,89 and with the lowest average was "family planning". Conclusions: The research participants have an unsatisfactory quality of life in relation to physical health and coping, and satisfactory in relation to relationships and sexuality(AU)

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.

Autoestima y estilos de afrontamiento: predictores de la calidad de vida en personas con hemofilia / Self-esteem and coping skills: predictors of quality of life in patients with hemophilia

Introducción: La hemofilia es un trastorno hemorrágico que causa dolor y daños articulares graves. Las personas con esta condición de salud suelen presentar problemas psicosociales como baja autoestima y dificultad para enfrentar la enfermedad, lo cual puede impactar negativamente en su calidad de vida relacionada a la salud (CVRS). Objetivo: Analizar el efecto predictor de la autoestima y las estrategias de afrontamiento hacia la CVRS en personas con hemofilia. Métodos: Estudio cuantitativo, no experimental, de tipo correlacional, con muestra por conveniencia, realizado en 60 participantes con hemofilia, edades comprendidas entre 15 y 67 años (media = 27,43, desviación estándar = 11,32). Se utilizaron los cuestionarios: Calidad de Vida Específica para Hemofilia, Autoestima y Afrontamiento al Dolor Crónico. Se realizaron análisis descriptivos, correlación de Pearson y análisis de regresión lineal múltiple con el método por pasos. Resultados: Se obtuvo que el nivel de CVRS fue mayormente moderado; sin embargo, se observaron niveles bajos en las dimensiones Deporte y tiempo libre y Futuro. La dimensión Éxito de la escala de autoestima correlacionó positivamente con las dimensiones Deporte y tiempo libre (r(60)= 0,59), Salud física (r(60)=0,54) y Autopercepción (r(60)=0,48) de la escala calidad de vida; además de haber mostrado un nivel alto de predicción de la calidad de vida (R 2 = 0,35, p= 0,00). Conclusiones: Se comprobó que la autoestima resulta ser una variable predictora de la CVRS de los pacientes con hemofilia. Se requiere fortalecer la autoestima y la manera de enfrentarse ante el dolor crónico en personas con este padecimiento en pro de su calidad de vida y bienestar(AU)

Introduction: Hemophilia is a bleeding disorder that causes severe pain and damage to the joints. People with this health condition often present psychosocial problems such as low self-esteem and difficulty facing their disease, which can negatively impact their health-related quality of life (HRQoL). Objective: To analyze the predictive effect of self-esteem and coping strategies towards HRQL in people with hemophilia. Methods: This was a quantitative, non-experimental, correlational study, with a convenience sample, carried out in 60 participants with hemophilia, ages between 15 and 67 years (mean = 27.43, standard deviation = 11.32). The Specific Quality of Life for Hemophilia, Self-esteem and Coping with Chronic Pain questionnaires were used. Descriptive analyzes. Pearson correlation and multiple linear regression analysis were performed with the stepwise method. Results: It was found that the level of HRQL was mostly moderate, however, low levels were observed in the Sports and free time and Future dimensions. The Success dimension of the self-esteem scale positively correlated with the Sports and free time dimensions (r(60) = 0.59). Physical health (r(60) = 0.54) and Self-perception (r(60) = 0.48) of the quality of life scale, in addition to having shown a high level of prediction of quality of life (R2 = 0.35, p = 0.00). Conclusions: It was found that self-esteem turns out to be a predictor variable of HRQL in patients with hemophilia. It is necessary to strengthen self-esteem and the way of coping with chronic pain in people with this condition in favor of their quality of life and well-being(AU)

Autonomía y dignidad en personas que viven con hemofilia / Autonomy and dignity in people living with hemophilia

INTRODUCCIÓN. La hemofilia es una condición rara hereditaria, crónica, potencialmente discapacitante e incapacitante, caracterizada por frecuentes sangrados debidos al déficit del factor VIII coagulante, Hemofilia A o del factor IX Hemofilia B. Las evaluaciones de calidad de vida en personas con hemofilia, basadas principalmente en el aspecto biológico, llevaron a considerar un importante enfoque bioético que evalúe la afectación de la autonomía y dignidad debida a la enfermedad. OBJETIVO. Registrar la percepción de la autonomía y dignidad de personas que viven con hemofilia. MATERIALES Y MÉTODOS. Estudio descriptivo transversal. Población de 92 y muestra de 28 varones mayores de 18 años con diagnóstico de hemofilia, atendidos en la Clínica de Coagulopatías Congénitas del Hospital de Especialidades Carlos Andrade Marín en el periodo marzo 2021 a agosto del 2021. Se excluyó a varones menores de 18 años atendidos en otras instituciones del Sistema Nacional de Salud. Estudio basado en el desarrollo de las capacidades centrales descritas por Martha Nussbaum. Se aplicó el test The Hemophilia Well Being Index que evaluó calidad de vida con relación al bienestar personal asociado a salud, y la herramienta Body Mapping que analizó en base al interpretativismo fenomenológico. RESULTADOS. El 100% de personas presentaron afectación en algún área de la vida investigada por el Hemophilia Well Being Index, que se confirma con las expresiones escritas y gráficas recopiladas por el Body Mapping. CONCLUSIÓN. La autonomía y dignidad se encuentran afectadas en las personas que viven con hemofilia, al igual que las capacidades centrales; es importante valorar cómo estos parámetros afectan la consecución de logros, lo que se debe considerar en estudios futuros.

INTRODUCTION. Hemophilia is a rare hereditary, chronic, potentially disabling and incapacitating condition, characterized by frequent bleeds due to deficiency of clotting factor VIII, Hemophilia A or factor IX Hemophilia B. Quality of life assessments in people with hemophilia, mainly based on the biological aspect, led to consider an important bioethical approach that evaluates the impairment of autonomy and dignity due to the disease. OBJECTIVE. To record the perception of autonomy and dignity of people living with hemophilia. MATERIALS AND METHODS. Cross-sectional descriptive study. Population of 92 and sample of 28 males over 18 years of age with a diagnosis of hemophilia, attended at the Congenital Coagulopathy Clinic of the Carlos Andrade Marin Specialty Hospital in the period March 2021 to August 2021. Males under 18 years of age attended in other institutions of the National Health System were excluded. The study was based on the development of the central capabilities described by Martha Nussbaum. The test The Hemophilia Well Being Index was applied, which evaluated quality of life in relation to personal wellbeing associated with health, and the tool Body Mapping which analyzed based on phenomenological interpretivism. RESULTS. 100% of people presented affectation in some area of life investigated by the Hemophilia Well Being Index, which is confirmed by the written and graphic expressions collected by the Body Mapping. CONCLUSION. Autonomy and dignity are affected in people living with hemophilia, as are core capacities; it is important to assess how these parameters affect achievement, which should be considered in future studies.

A Case of Hemophilia B with Abdominal and Pelvic Pseudotumor / 罕见病研究

Hemophilia B is a genetic disorder caused by coagulation factor Ⅸ(FⅨ) deficiency, mainly manifesting as joint, muscle and deep tissue bleeding. Hemophilia pseudotumor is a mass formed by soft tissue liquefaction and necrosis caused by repeated bleeding. Most pseudotumors occur in the bone and muscle. We report a case of hemophilia B with pseudotumor formation in the pelvis and abdomen, where lesion location is relatively rare. After active and effective hemostasis, the patient's hematuria symptom gradually improved. This case suggests that early and timely hemostatic treatment is crucial for patients with hemophilia.

A multicenter phase Ⅲ clinical study of human prothrombin complex concentrate in treatment of hemophilia B / 中国输血杂志

【Objective】 To evaluate the clinical efficacy and safety of one kind of human prothrombin complex concentrate in treatment of patients with hemophilia B. 【Methods】 The clinical data of 36 patients with hemophilia B treated with human prothrombin complex concentrate produced by Shenzhen Weiguang Biological Products Co. Ltd. from May 2018 to April 2019 were retrospectively analyzed, and its clinical efficacy and safety were analyzed. 【Results】 A total of 35 subjects entered the full analysis set (FAS)and safety set (SS), 33 subjects entered the per protocol Set (PPS). Thirty minutes after the first infusion of FAS subjects, the activity of coagulation factor Ⅸ increased from (3.93±0.975) IU/dL to (25.61±9.337) IU/dL, and the infusion efficiency was (96.43±22.007)%. The increased value of coagulation factor Ⅱ activity was (73.25±14.874) IU/dL. The activity of coagulation factor Ⅶ was (42.79±16.847) IU/dL. The increased value of coagulation factor Ⅹ activity was (65.29±17.042) IU/dL. The increased value of coagulation factor Ⅸ activity was (21.68±9.434%) IU/dL. Twenty-four hours after the first infusion of FAS subjects, the improvement of bleeding symptoms and signs was excellent in 21 cases (60%), improved in 14 cases (40.0%), and the effective rate was 100%. The incidence of adverse reactions was 2.9%(1/35), and there was no antibody to human coagulation factor Ⅸ and new virus infection. 【Conclusion】 Infusion of human prothrombin complex concentrate produced by Shenzhen Weiguang Biological Products Co. Ltd. in the treatment of hemophilia B has significant clinical efficacy and good safety.

Quality of clinical studies present in the package inserts of coagulation factors used in the treatment of hemophilia

ABSTRACT Objective To identify and analyze the quality of scientific evidence from clinical efficacy studies present in the package inserts of coagulation factors, used in the treatment of hemophilia A and B. Methods Documentary study developed in two stages. The first stage consisted of identifying the medicine packages inserts electronically registered in the Brazilian Health Regulatory Agency, and analyzing the availability of the bibliographic references cited therein. This analysis was conducted in the PubMed, SciELO, Google Scholar, and Web of Science databases. The second step was the analysis of the methodological quality of the efficacy studies. Two trained researchers used the Cochrane Collaboration Risk of Bias version 5.1.0 tools for methodological quality analysis, and Review Manager 5.4 software to generate the risk of bias graph. Results Of the 17 medicines listed, 7 had referenced package inserts. Of these, 10 studies were eligible for analysis of methodological quality. More than half of the analyzed studies did not control for selection, performance, and detection bias. A total of 100% controlled attrition and reporting biases, and 50% had a high risk of conflict of interest. Conclusion The biases present are significant and may have influenced the overestimation of the effects of the outcomes of each of the studies.

Calidad de vida en adultos con hemofilia afiliados a un programa de salud en Medellín, Colombia

Objetivo: determinar la calidad de vida relacionada con la salud en adultos con hemofilia afiliados a un programa de coagulopatía y explorar su asociación con factores clínicos y demográficos. Diseño: estudio observacional de corte transversal descriptivo y exploratorio. Se aplicó a todos los pacientes con hemofilia de una clínica especializada de Medellín (Colombia) el cuestionario de calidad de vida específico para hemofilia en Latinoamérica (Hemolatin-QoL). Se usaron medidas de estadística descriptiva y se evaluaron los factores asociados con las distintas dimensiones de la calidad de vida usando Kruskall-Wallis y correlación de Spearman. Resultados: se incluyeron 48 adultos con una mediana de edad de 32 años (RI: 23,2-40,7). La población varió en la gravedad de la hemofilia (leve 16,7 %, moderada 12,5 % y grave 70,8 %) y en el tratamiento (75,0 % profilaxis, 22,9 % demanda y 2,1 % inmunotolerancia). El 37,5 % tenía movilidad reducida y el 16,7 % comorbilidad. El puntaje total del Hemolatin-QoL fue 81,5. Los factores asociados con una menor calidad de vida fueron una mayor edad, número de comorbilidades, nivel socioeconómico bajo, presencia de artropatía y movilidad reducida. Conclusiones: la calidad de vida obtuvo puntuaciones cercanas a la máxima posible del cuestionario. Los factores asociados con la calidad de vida son similares a los encontrados en otras poblaciones y están relacionados con dificultades económicas, otras enfermedades y discapacidad. Es necesario realizar estudios posteriores y longitudinales con una muestra mayor para establecer asociaciones causales.

SUMMARY Objective: To determine the quality of life related to health in adults with hemophilia affiliated with a coagulopathic disorders program and to explore its association with clinical and demographic factors. Design: A cross sectional and descriptive study was performed. The hemophilia-specific quality of life questionnaire in Latin America (Hemolatin-QoL) was applied to all hemophilia patients at a specialized clinic in Medellín (Colombia). Descriptive statistical measures were used, and the factors associated with the different dimensions of quality of life were evaluated using the Kruskall-Wallis test and the Spearman correlation coefficient. Results: Forty-eight adults were included, with a median age of 32 years old (RI: 23.2-40.7). The population varied in the severity of hemophilia (16.7% mild, 12.5% moderate, and 70.8% severe) and in treatment (75% prophylaxis, 22.9% demand and 2.1% immuno-tolerance.), 37.5% had reduced mobility, while 16.7% suffered from comorbidity. The total Hemolatin-Qol score was 81.5. The factors associated with lower quality of life were: older age, number of comorbidities, low socioeconomic level, presence of arthropathy and reduced mobility. Conclusions: The quality-of-life scores obtained by the study were close to the maximum possible score of the questionnaire. The factors associated with quality of life are similar to those found in other populations and are related to economic difficulties, other diseases and disability. Further longitudinal studies with a larger sample are necessary to establish causal associations.

Características epidemiológicas y clínicas de los menores de 18 años con hemofilia asistidos en el Centro Hospitalario Pereira Rossell. 2016 - 2018 / Epidemiologic and clinical characteristics of hemophilic patients of under 18 years of age assisted at the Pereira Rossell Hospital Center. 2016-2018 / Características epidemiológicas e clínicas de menores de 18 anos com hemofilia assistidos no Centro Hospitalar Pereira Rossell. 2016 - 2018

Resumen: Introducción: la hemofilia es una enfermedad hereditaria, ligada al cromosoma X, debida al déficit de factor VIII (tipo A) o IX (tipo B). La prevalencia estimada al nacimiento es de 24,6 casos cada 100.000 varones para hemofilia A y 5 casos cada 100.000 para hemofilia B. El Departamento de Medicina Transfusional (DMT) del Centro Hospitalario Pereira Rossell (CHPR) es el Centro de Referencia Nacional (CDRN) para los menores de 18 años. El abordaje integral, inter-disciplinario del paciente con hemofilia en un centro especializado disminuye la morbi-mortalidad y contribuye a mejorar la calidad de vida. Objetivo: describir las características epidemiológicas y clínicas de los menores de 18 años con hemofilia asistidos en el DMT-CHPR entre el 1 enero de 2016 y el 31 de diciembre de 2018. Metodología: estudio descriptivo, retrospectivo, de todos los menores de 18 años con hemofilia. Se describió: edad y circunstancias del diagnóstico, tipo y severidad de la hemofilia, controles en salud, estudios complementarios, complicaciones, frecuencia y motivos de hospitalización, tratamiento. El protocolo de estudio fue aprobado por el Comité de Ética Institucional. Resultados: se asistieron 67 pacientes, 57 con hemofilia A y 10 con hemofilia B. La mediana de edad fue 8 años. Presentaban hemofilia severa 61 pacientes, moderada 2 y leve 4. Presentaban antecedentes familiares de coagulopatía 41. La mediana de edad al diagnóstico fue 2 meses. Se diagnosticaron en el período neonatal 24 de los pacientes con hemofilia A y 5 con hemofilia B. Desarrollaron inhibidores 7 pacientes, todos con hemofilia severa. Conclusiones: en esta serie, predominaron los pacientes con hemofilia A, severa, antecedentes familiares conocidos de coagulopatía, en tratamiento profiláctico con factores de la coagulación. Esta comunicación aporta información valiosa sobre las características de estos pacientes, lo que contribuye a la gestión clínica y a planificar estrategias de mejora de la calidad asistencial.

Summary: Introduction: hemophilia is a hereditary disease, linked to chromosome X and caused by the deficit of factor VIII (type A) and IX (type B). Estimated prevalence at birth is 24.6 cases every 100,000 boys for hemophilia A and 5 cases every 100,000 cases for hemphilia B. The Transfusion Medical Department (TMD) of the Pereira Rossell Children's Hospital Center (CHPR, acronym in Spanish) is the national reference center (NRC) for patients under 18 years of age. A comprehensive, inter-disciplinary approach to hemophilic patients at a specialized center decreases morbidity and mortality and contributes to improving quality of life. Objective: to describe the epidemiologic, clinical and progression characteristics of hemophilic patients of under 18 years of age assisted at the TMD-CHPR between January 1st 2016 and December 31st, 2018. Methodology: descriptive, retrospective study of all hemophilic patients of under 18 years of age. Variables described: age, circumstances of diagnosis, type and severity of hemophilia, health check-ups, tests, complications, frequency and reasons for hospital admittance, treatment. The study protocol was approved by the Institutional Ethics Committee. Results: 67 patients were assisted, 57 with hemophilia A and 10 with hemophilia B. Median age was 8 years. Severe hemophilia was present in 61 patients, moderate in 2 and mild in 4. 41 had a family history of coagulopathy. Median age at diagnosis was 2 months. 24 patients with hemophilia A and 5 patients with hemophilia B were diagnosed during the neonatal period. 7 patients developed inhibitors, all of them with severe hemophilia. Conclusions: in this study there is a predominance of patients with severe hemophilia A, known family history of coagulopathy, under prophylactic treatment with coagulation factors. This study provides valuable information about the characteristics of these patients, which contributes to improved clinical management and planning strategies to improve their quality of care.

Resumo: Introdução: o Departamento de Medicina Transfusional (DMT) do Centro Hospitalar Pereira Rossell (CHPR) é o Centro Nacional de Referência (CNR) para menores de 18 anos de idade. A abordagem abrangente e interdisciplinar do paciente com hemofilia em um centro especializado reduz a morbimortalidade e contribui para a melhoria da qualidade de vida. Objetivo: descrever as características epidemiológicas, clínicas e evolutivas em crianças menores de 18 anos com hemofilia atendidas no DMT-CHPR entre 1 de janeiro de 2016 e 31 de dezembro de 2018. Metodologia: estudo descritivo, retrospectivo, de todos os menores de 18 anos com hemofilia. Descrevemos: idade e circunstâncias do diagnóstico, tipo e gravidade da hemofilia, controles de saúde, estudos complementares, complicações, frequência e motivos de hospitalização, tratamento. O protocolo do estudo foi aprovado pelo Comitê de Ética Institucional. Resultados: 67 pacientes foram atendidos, 57 com hemofilia A e 10 com hemofilia B. A media de idade foi de 8 anos. Houve 61 pacientes com hemofilia grave, moderada 2 e leve 4. 41 tiveram história familiar de coagulopatia. A media de idade no diagnóstico foi de 2 meses. 24 dos pacientes com hemofilia A e 5 com hemofilia B foram diagnosticados no período neonatal e 7 desenvolveram inibidores, todos com hemofilia grave. Conclusões: neste estudo, predominaram pacientes com hemofilia A grave, história familiar conhecida de coagulopatia, em tratamento profilático com fatores de coagulação. O estudo fornece informações valiosas sobre as características desses pacientes, o que contribui para o manejo clínico e estratégias de planejamento para melhorar a qualidade do atendimento deles.

Adapting to (co)exist: experience of men with hemophilia in southern Brazil / Adaptando para (con)vivir: experiencia de hombres con la hemofilia en el sur de Brasil / Adaptando para (con)viver: experiência de homens com a hemofilia no sul do Brasil

ABSTRACT Objective To understand the experience of men in relation to the process of living with hemophilia. Method Qualitative study using the theoretical and methodological referential Symbolic Interactionism and the constructivist strand of Grounded Theory. Participated 12 men with hemophilia followed at a Blood Center in the south of Rio Grande do Sul, Brazil. Intensive interviews, genograms and field notes were used for data collection, with concomitant analysis, following the initial, focused, and theoretical coding stages. Results The theoretical model was built, which has as central category Adapting to (co)exist with hemophilia and the categories Knowing yourself and the illness: knowing how to deal, Adjusting life: taking care of yourself and Getting used to the illness: being almost normal. Conclusion It was revealed the experience of men who adapt to (co)exist with hemophilia and their actions and behaviors, aiming to preserve them away from bleeding, pain, and the risk of death.

RESUMEN Objetivo Comprender la experiencia de los hombres en relación con el proceso de vivir con hemofilia. Método Estudio cualitativo usando los referenciales teórico y metodológico Interaccionismo Simbólico y la línea constructivista de la Teoría Fundamentada. Participaran 12 hombres con hemofilia acompañados en un Banco de Sangre en el sur del Rio Grande do Sul, Brasil. Se utilizó para recolecta de datos entrevista intensiva, genograma y nota de campo, con análisis concomitante, siguiendo las etapas de codificación inicial, focalizada y teórica. Resultados Se construyó el modelo teórico, que tiene como categoría central Adaptando para (con)vivir con hemofilia y las categorías Conociendo a sí mismo y la enfermedad: sabiendo lidiar, Ayustando la vida: cuidando de sí y Acostumbrándose con la enfermedad: siendo casi normal. Conclusión: Se reveló la experiencia de hombres que se adaptan a (con)vivir con hemofilia y sus acciones y comportamientos, con el objetivo de preservarlos lejos del sangrado, el dolor y el riesgo de muerte.

RESUMO Objetivo Compreender a experiência de homens em relação ao processo de viver com a hemofilia. Método Estudo qualitativo usando os referenciais teórico e metodológico Interacionismo Simbólico e a vertente construtivista da Teoria Fundamentada nos Dados. Participaram 12 homens com hemofilia acompanhados em um Hemocentro situado no sul do Rio Grande do Sul, Brasil. Utilizou-se para a coleta de dados entrevista intensiva, genograma e nota de campo, com análise concomitante, seguindo as etapas de codificação inicial, focalizada e teórica. Resultados Construiu-se o modelo teórico, que tem como categoria central Adaptando para (con)viver com a hemofilia e as categorias Conhecendo a si e a doença: sabendo lidar, Ajustando a vida: cuidando de si e Acostumando-se com a doença: sendo quase normal. Conclusão Revelou-se a experiência de homens que realizam adaptações para (con)viver com a hemofilia e suas ações e comportamentos, visando preservá-los longe de sangramentos, da dor e do risco de morte.

Avaliação da Força Muscular em Adultos com Hemofilia de uma Associação de Pacientes em Brasília / Assessment of Muscle Strength in Adults with Hemophilia from an Association of Patients in Brasília / Evaluación de la fuerza muscular en adultos con hemofilia de una asociación de pacientes en Brasilia

Objetivo: avaliar a força muscular periférica em adultos portadores de hemofilia, por meio da dinamometria manual, e verificar a diferença da força muscular de acordo com a classificação de gravidade da hemofilia. Método: Participaram da pesquisa 20 homens divididos em 2 grupos, um com hemofílicos e um controle; foi aplicada uma ficha avaliativa seguida do teste de preensão palmar. Resultados: Quando comparados os dois grupos, foi observada diferença estatística significativa nas variáveis estatura (p=0,007) e força de preensão dos lados dominante (p=0,04) e não dominante (0,002), favorecendo o grupo controle; quando comparada a força de preensão dos hemofílicos com a doença leve e grave, houve diferença significativa para o lado não dominante (p=0,01). Conclusão: Pode-se associar a diminuição de força de preensão para o grupo de hemofílicos à sua condição de doença crônica hereditária. Entretanto, como o número de participantes foi pequeno, esses resultados sugestivos, mostram a necessidade de mais estudos sobre o tema

Objective: to evaluate peripheral muscle strength in adults with hemophilia, through manual dynamometry, and to verify the difference in muscle strength according to the classification of hemophilia severity. Method: Twenty men participated in the research, divided into 2 groups, one with hemophiliacs and one control; an evaluation form was applied, followed by the handgrip test. Results: When the two groups were compared, a statistically significant difference was observed in the variables height (p=0.007) and grip strength of the dominant (p=0.04) and non-dominant (0.002) sides, favoring the control group; when comparing the grip strength of hemophiliacs with mild and severe disease, there was a significant difference for the non-dominant side (p=0.01). Conclusion: The decrease in grip strength for the group of hemophiliacs can be associated with their condition of hereditary chronic disease. However, as the number of participants was small, these suggestive results show the need for more studies on the subject.

Objetivo: El objetivo del estudio fue evaluar la fuerza muscular periférica en adultos con hemofilia, mediante dinamometría manual, y verificar la diferencia en la fuerza muscular según la clasificación de severidad de la hemofilia. Método: Participaron de la investigación 20 hombres, divididos en 2 grupos, uno con hemofílicos y otro control; Se aplicó un formulario de evaluación, seguido de la prueba de agarre. Resultados: Al comparar los dos grupos, se observó una diferencia estadísticamente significativa en las variables altura (p = 0,007) y fuerza de agarre en los lados dominantes (p = 0,04) y no dominantes (0,002), favoreciendo al grupo control; al comparar la fuerza de agarre de los hemofílicos con la enfermedad leve y grave, hubo una diferencia significativa para el lado no dominante (p = 0,01). Conclusión: La disminución de la fuerza de prensión del grupo de hemofílicos puede estar asociada a su condición de enfermedad crónica hereditaria. Sin embargo, como el número de participantes fue pequeño, estos sugerentes resultados muestran la necesidad de más estudios sobre el tema.

Bleeding complication after surgical removal of impacted teeth in a patient with undiagnosed clotting disorder / Complicação de sangramento após remoção cirúrgica de dentes impactados em um paciente com desordem de coagulação não diagnosticado

ABSTRACT To report one case of bleeding episodes after impacted teeth extractions had been performed in a patient with undiagnosed clotting disorder, describing a sequence of approaches for hemostasis up to the appropriated diagnosis and effective resolution. A male 16-year old patient with surgical indication to remove eight impacted teeth. After the surgery, there were bleeding episodes, being needed for hospital admission to keep on his physiological functions, blood pressure and heartbeat frequency regularly, to carry out laboratory blood tests, and to achieve hemostasis by using antifibrinolytics and blood products. After 24 hours, 11% of IX clotting factor was verified into bloodstream by specific blood test, being diagnosed with mild Hemophilia B. From the diagnosis, infusions of IX clotting factor were performed to the adequate resolution and recovery of the patient. The clinical conducts were efficient to keep on stable vital signs and achieving appropriate diagnosis. However, preventive behaviors should be applied in hemophilic patients in pre- or intra-operative, avoiding circumstances that can compromise health condition of the patient.

RESUMO Relatar um caso de episódios de sangramento após remoção de dentes inclusos em paciente com distúrbio de coagulação não diagnosticado, descrevendo uma sequência de condutas para hemostasia até o diagnóstico apropriado e resolução efetiva. Paciente do gênero masculino, 16 anos, com indicação de remoção de 8 dentes inclusos. Após a cirurgia, houve episódios de sangramento, sendo necessária sua internação para integridade das funções orgânicas básicas, realização de exames laboratoriais, controle hemodinâmico e tentativa de obtenção de hemostasia por meio de antifibrinolíticos e hemoderivados. Após 24 horas de internação, 11% do fator IX de coagulação foi verificado na corrente sanguínea por meio de exame específico, sendo o paciente diagnosticado com Hemofilia B de caráter leve. A partir do diagnóstico, infusões do fator deficiente foram realizadas para resolutividade adequada e recuperação do paciente. As condutas realizadas foram eficientes para manutenção dos sinais vitais até a hemostasia obtida após diagnóstico adequado. No entanto, as condutas preventivas devem ser aplicadas em pacientes hemofílicos no pré- ou trans-operatórios, evitando circunstâncias que podem comprometer o estado de saúde do paciente.

Construção e validação de instrumento de consulta de enfermagem para pessoas com hemofilia / Construcción y validación de un instrumento de consulta de enfermería para personas con hemofilia / Construction and validation of a nursing consultation tool for people with hemophilia

RESUMO Objetivo: construir e validar um instrumento de consulta de enfermagem para pessoas com hemofilia. Método: estudo metodológico realizado de fevereiro de 2017 a fevereiro de 2018, em um serviço referência de hematologia do Nordeste do Brasil. Utilizou-se a técnica Delphi para validação, por três grupos de enfermeiras juízas (n=29): Especialistas em hemofilia (n=nove) de nove hemocentros do país; Residência em Hematologia (n=oito); Enfermeiras do Serviço (n=12). A concordância entre as juízas foi verificada por escala Likert e teste exato de Fisher. Resultados: 89,6% não apresentaram dificuldade para compreender o instrumento. Quanto ao grau de relevância, as características 'credibilidade' e 'cientificidade' apresentaram maiores percentuais de extremamente relevante (90%). O teste exato de Fisher foi significativo no grau de satisfação de 'clareza das afirmações' (p<0,05). Conclusão: o instrumento foi considerado válido, proporcionando autonomia, apoio técnico e respaldo ético ao enfermeiro, contribuindo na melhoria da qualidade da assistência.

RESUMEN Objetivo: construir y validar un instrumento de consulta de enfermería para personas con hemofilia. Método: estudio metodológico realizado de febrero de 2017 a febrero de 2018, en un servicio de referencia de hematología del Nordeste de Brasil. Para la validación se utilizó la técnica Delphi, por parte de tres grupos de enfermeras jueces (n=29): Especialistas en hemofilia (n=nueve) de nove hemocentros del país; Residencia en Hematología (n=ocho); Enfermeras del Servicio (n=12). La concordancia entre las jueces se verificó mediante la escala Likert y la prueba exacto de Fisher. Resultados: 89,6% não apresentaram dificuldade para compreender o instrumento. Quanto ao grau de relevância, as características 'credibilidade' e 'cientificidade' apresentaram maiores percentuais de extremamente relevante (90%). O teste exato de Fisher foi significativo no grau de satisfação de 'clareza das afirmações' (p<0,05). Conclusión: o instrumento foi considerado válido, proporcionando autonomia, apoio técnico e respaldo ético ao enfermeiro, contribuindo na melhoria da qualidade da assistência.

ABSTRACT Objective: to construct and validate a nursing consultation instrument for people with hemophilia. Method: methodological study conducted from February 2017 to February 2018, in a hematology reference service in Northeast Brazil. The Delphi technique was used for validation, by three groups of nurse judges (n=29): hemophilia specialists (n=nine) from nine blood centers in the country; Hematology Residency (n=eight); Service Nurses (n=12). Inter-rater agreement was checked by Likert scale and Fisher's exact test. Results: 89.6% had no difficulty in understanding the instrument. As for the degree of relevance, the characteristics 'credibility' and 'scientificity' showed higher percentages of extremely relevant (90%). Fisher's exact test was significant in the degree of satisfaction of 'clarity of statements' (p<0.05). Conclusion: the instrument was considered valid, providing autonomy, technical support, and ethical support to the nurse, contributing to the improvement of the quality of care.

Perfil dos hemofílicos provenientes de uma associação de pacientes / Hemophiliacs profile provided of a patient association / Perfil de hemofílicos de una asociación de pacientes

Objetivo: traçar o perfil epidemiológico de hemofílicos vinculados a uma associação de pacientes do estado de Goiás, Brasil. Método: pesquisa transversal realizada com indivíduos do gênero masculino acima dos 18 anos de idade. Catorze participantes foram submetidos a uma ficha de avaliação contendo questões sociodemográficas e clínicas. O presente estudo utilizou análises de frequências para descrição da amostra. Para as variáveis quantitativas rodou-se o teste de normalidade de Shapiro Wilk. Resultados: a média de idade encontrada foi de 32,64 anos ± 9,32. A maior parte dos indivíduos residia a menos de 30 km do centro de tratamento e apresentaram a forma grave da doença. Em relação às comorbidades, um indivíduo apresentou inibidor do fator de coagulação e as infecções virais estiveram ausentes em 71,4% dos participantes, em um período que não havia controle antiviral. As hemorragias articulares predominantes foram observadas no cotovelo e joelho e o hematoma muscular esteve presente em 50% da amostra. O tratamento mais utilizado pelos participantes foi a profilaxia secundária. Conclusão: a partir da caracterização dos pacientes hemofílicos cadastrados em uma associação é possível compreender mais sobre a patologia em estudo, demonstrando que as infecções virais se constituem em importantes comorbidades adquiridas por hemofílicos adultos.

Objective: to trace the epidemiological profile of hemophiliacs linked to a patient association in the state of Goiás, Brazil. Method: cross-sectional research conducted with male individuals over 18 years old. Fourteen participants were submitted to an evaluation form containing sociodemographic and clinical questions. The present study used frequency analysis to describe the sample. For quantitative variables, the Shapiro Wilk normality test was run. Results: the average age found was 32.64 years ± 9.32. Most individuals lived less than 30 km from the treatment center and had a severe form of the disease. Regarding comorbidities, one individual had a coagulation factor inhibitor and viral infections were absent in 71.4% of the participants, in a period when there was no antiviral control. The predominant joint hemorrhages were observed in the elbow and knee and muscle hematoma was present in 50% of the sample. The most used treatment by the participants was secondary prophylaxis. Conclusion: from the characterization of hemophiliac patients registered in an association, it is possible to understand more about the pathology under study, demonstrating that viral infections are important comorbidities acquired by adult hemophiliacs.

Objetivo: rastrear el perfil epidemiológico de hemofílicos vinculados a una asociación de pacientes en el estado de Goiás, Brasil. Método: investigación transversal realizada con varones mayores de 18 años. Se enviaron catorce participantes a un formulario de evaluación conteniendo preguntas sociodemográficas y clínicas. El estudio utilizó análisis de frecuencia describiendo la muestra. Para las variables cuantitativas se ejecutó la prueba de normalidad de Shapiro Wilk. Resultados: la edad promedio fue de 32,64 años ± 9,32. La mayoría de las personas vivían a menos de 30 km del centro de tratamiento y tenían una forma grave de la enfermedad. En cuanto a las comorbilidades, un individuo tenía un inhibidor del factor de coagulación y las infecciones virales estaban ausentes en el 71,4% de los participantes, en un período en el que no hubo control antiviral. Las hemorragias articulares predominantes se observaron en el codo y la rodilla y el hematoma muscular estuvo presente en el 50% de la muestra. El tratamiento más utilizado por los participantes fue la profilaxis secundaria. Conclusión: a partir de la caracterización de los pacientes hemofílicos, es posible conocer más sobre la patología en estudio, demostrando que las infecciones virales son importantes comorbilidades adquiridas por hemofílicos adultos.

Cost analysis of hemophilia treatment in a Brazilian public blood center / Custo-análise do tratamento da hemofilia em um hemocentro público brasileiro

Abstract Background hemophilia is a rare coagulopathy, treated by replacing the missing blood clotting factor. Objective to assess the direct costs of hemophilia treatment from the perspective of the Unified Health System, highlighting the impact costs of new therapeutic modalities. Method partial economic assessment of the direct costs of hemophilia, in which were collected data from patient records from 2011 to 2015, at the Blood Center in the city of Juiz de Fora. Costs were assigned to consultations, exams, hospitalizations, and medications according to the price list of the National Health Surveillance Agency (in Portuguese ANVISA) and the Table of Procedures, and Medications. Results among 98 patients evaluated, 76 had hemophilia A, and 43.3% presented severe hemophilia. The number of consultations and the consumption of Clotting Factor Concentrates (CFCs) were higher in severe hemophilia. Hospitalizations were rare. Direct costs increased 286.8% from 2011 to 2015. The mean annual cost per patient was R$57,416.43, with no significant difference between hemophilia A and B. The expenditures for factor concentrates amounted to 99.46% of total costs. The actual impact cost was more than R$6,000,000.00. Conclusion the direct costs of hemophilia were high, mainly due to factor concentrates. There was an increase in costs with the incorporation of technologies, although there are some areas with potential inefficiencies.

Resumo Introdução hemofilia é uma coagulopatia rara, tratada com reposição do fator de coagulação deficiente. Objetivo avaliar custos diretos do tratamento da hemofilia pela perspectiva do Sistema Único de Saúde brasileiro, destacando o impacto nos custos das novas modalidades terapêuticas. Método análise econômica parcial dos custos diretos da hemofilia. Foram coletados dados de prontuários de pacientes do Hemocentro de Juiz de Fora de 2011-2015. Aos atendimentos, exames, hospitalizações e medicamentos, foram atribuídos custos conforme as Tabelas de Preços da Agência de Vigilância Sanitária e de Procedimentos e Medicamentos do SUS. Resultados entre 98 pacientes avaliados, 76 tinham hemofilia A e 43,3%, hemofilia grave. O número de consultas e o consumo de concentrados de fatores da coagulação foram mais altos na hemofilia grave. Hospitalizações foram raras. Os custos diretos aumentaram 286,8% entre 2011-2015. O custo anual médio por paciente foi R$57.416,43 sem diferença significativa entre hemofilia A e B. Os concentrados de fator corresponderam a 99,46% dos custos totais. O impacto nos custos foi de mais de R$6.000.000,00. Conclusão custos diretos da hemofilia são altos, principalmente devido aos concentrados de fator. O aumento nos custos com as novas tecnologias foi muito elevado embora ainda haja áreas com ineficiências no tratamento da hemofilia.

Atuação de médicos e enfermeiros no atendimento de emergência ao paciente hemofílico / Performance of doctors and nurses in emergency care for hemophiliac patients

Objetivo: descrever a atuação de médicos e enfermeiros no atendimento de emergência ao paciente hemofílico. Metodologia: estudo exploratório e qualitativo, realizado com enfermeiros e médicos do setor de emergência de uma Unidade Hospitalar de referência e de uma Unidade de Pronto Atendimento na região Centro-Sul do Ceará. Os dados foram coletados em setembro e outubro de 2018 por meio de questionário semiestruturado composto por questões abertas e fechadas. As respostas foram submetidas à análise de conteúdo. O estudo foi aprovado pelo Comitê de Ética. Resultados: evidenciou-se uma fragilidade no conhecimento dos profissionais acerca da hemofilia e uma insuficiência no suporte das unidades para oferta do cuidado ao hemofílico. As unidades não possuem um protocolo de atendimento para atender esses pacientes, dificultando a execução do cuidado direcionado ao hemofílico. A falta de capacitação dos profissionais, medicamentos específicos para hemofilia e de hematologista na equipe constituem dificuldades em ofertar a assistência. Conclusão: o estudo identificou a necessidade de educação permanente em saúde no atendimento aos pacientes hemofílicos, desburocratizar e tornar menos fragmentado o cuidado em redes, com vista a garantir a integralidade do cuidado.

Objective: to describe the role of doctors and nurses in emergency care for hemophiliac patients. Methodology: exploratory and qualitative research, carried out with nurses and doctors in the emergency department of a referral Hospital Unit and an Emergency Care Unit in the Center-South region of Ceará. Data collection took place from September to October 2018 using a semi-structured questionnaire composed of open and objective questions. The responses were submitted to content analysis. The study was approved by the Ethics Committee. Results: there was a weakness in the professionals' expertise about hemophilia and insufficiency in the support of units to provide care to the hemophiliac. The units do not have a flow protocol to assist these patients, making it difficult to carry out care directed to hemophiliacs. The lack of training of professionals, specific medications for hemophilia and a hematologist in the team represent difficulties in assisting. Conclusion: the research identified the need for permanent health education in the care of hemophiliac patients, reducing bureaucracy and making care in networks less fragmented, aimed at guaranteeing comprehensive care

Hemofilia B o enfermedad de Christmas / Hemophilia B or Christmas disease

La hemofilia B o enfermedad de Christmas se diferenció por primera vez de la hemofilia A en 1947. Su forma clásica consiste en un trastorno hereditario de la coagulación causado por mutaciones en el gen F9, que codifica para el factor IX de la coagulación. Su herencia está ligada al cromosoma X; las mujeres son portadoras, pero se manifiesta clínicamente en hombres, aunque se han descrito casos de mujeres portadoras sintomáticas. El factor IX activado es una proteína dependiente de vitamina K, sintetizada en el hígado, que forma parte del complejo tenasa, cuya función es formar la mayor cantidad de trombina en el nuevo modelo de la coagulación basado en células. De acuerdo a la actividad del factor IX, su deficiencia se puede clasificar en leve (5% a 40%), moderada (1% a 5%), o severa (<1%). Su diagnóstico se realiza con la presencia de un TPT alargado que corrige con plasma normal y con la determinación del nivel funcional del factor IX, y se confirma con el estudio molecular que demuestra la mutación en el gen F9. Su diagnóstico diferencial incluye otras patologías como la hemofilia A. El tratamiento con factor IX recombinante es el más utilizado en la actualidad, pero se vienen desarrollando nuevas terapias con virus adeno-asociados recombinantes que prometen mejorar la calidad de vida para algunos pacientes afectados. La profilaxis juega un papel fundamental, en particular en los casos de enfermedad moderada y severa.

Hemophilia B or Christmas disease was first differentiated from hemophilia A in 1947. Its classic form consists of an inherited bleeding disorder caused by mutations in the F9 gene, which codes for coagulation factor IX. Its inheritance is linked to the X chromosome; women are carriers, but it manifests clinically in men, although cases of symptomatic women carriers have been described. Factor IX activates a vitamin K-dependent protein, synthesized in the liver, which is part of the tenase complex whose function is to form the largest amount of thrombin (factor IIa) in the new model of cell-based coagulation. According to factor IX activity, its deficiency can be classified as mild (5% to 40%), moderate (1% to 5%), and severe (<1%). The diagnosis is made when there is a prolonged TPT that corrects with normal plasma, and by assessing the functional level of factor IX. The diagnosis is confirmed by molecular analysis that demonstrates the F9 gene mutation. Its differential diagnosis includes disorders such as hemophilia A. Treatment with recombinant factor IX is widely used, but also new therapies are being developed with recombinant adeno-associated viruses that promise to improve the quality of life for some of these patients. Prophylaxis plays an important role in cases of moderate and severe disease