Repercusión clínica de la alfa-talasemia en nuestro medio. Impacto del screeningneonatal / Clinical consequences of alpha-thalassemia in the basque country, Spain. Impact of neonatal screening

INTRODUCCIÓN: La alfa-talasemia es la hemoglobinopatía más frecuente de expresión clínica variable en función del número de alelos mutados (1-2 alelos mutados: asintomático/anemia leve, 3-4 alelos mutados: enfermedad grave). Desde mayo de 2011 se ha añadido el estudio de hemoglobinopatías al screening neonatal en la Comunidad Autónoma del País Vasco (CAPV). OBJETIVOS: Valorar el impacto de la alfa-talasemia en nuestro medio y la utilidad del screening neonatal en su detección. MÉTODO: Revisión de pacientes con estudio genético positivo para alfa-talasemia durante 2 años (2012-2013) y estudio de la edad al diagnóstico, etnia, resultados analíticos y tratamiento. RESULTADOS: Se realizó un estudio genético de alfa-talasemia a 107 pacientes, de los cuales 61 presentaron alguna mutación. El 62% tenía un alelo mutado y el 38%, 2 alelos. La edad media al diagnóstico fue de 31 años, con un 28% menores de 18 años. La mayoría eran de procedencia europea con un porcentaje no desdeñable de africanos (26%) y árabes (13%) Todos los pacientes estudiados estaban asintomáticos con anemia leve en el 28%. Dos pacientes fueron diagnosticados por screening neonatal. La mayoría de pacientes no requirió tratamiento o precisó ferroterapia. CONCLUSIONES: La presencia de una o 2 mutaciones en los genes alfa carece de repercusión clínica, y el único interés de su estudio es que permite el consejo genético. En nuestro entorno no hemos encontrado pacientes con 3-4 mutaciones ni con sintomatología grave. A diferencia de lo que ocurre con otras enfermedades, nuestros resultados no apoyan que el screening neonatal de alfa-talasemia tenga un impacto significativo en nuestro entorno

INTRODUCTION: Alpha-thalassemia is the most common hemoglobinopathy with a variable clinical manifestation depending on the number of allele mutations (asymptomatic/mild anemia if 1-2 allele mutations, severe disease if 3-4 allele mutations). A study was conducted from May 2011 on hemoglobinopathies found in the neonatal screening in the autonomous community of the Basque Country (CAPV). OBJECTIVES: To analyze the impact of alpha-thalassemia in this area and the effectiveness of its neonatal screening. METHODS: A review was made of patients with a positive gene study for alpha-thalassemia over a 2-year period (2012-2013) and an analysis was made of the age at diagnosis, ethnic group, analytical result, and treatment. RESULTS: The genetic study was performed on 107 patients, of which 61 had some mutation, with 62% having one allele mutations and 38% with two alleles. The mean age at diagnosis was 31 years, with 28% being younger than eighteen years old. Most of the patients were European with a significant number of Africans (26%) and Arabs (13%). All patients were asymptomatic, and 28% had mild anemia. Two patients were diagnosed by neonatal screening. Most of them did not need any treatment or only required iron therapy. CONCLUSIONS: The detection of one or two alpha gene mutations has no clinical impact, but allows genetic counseling. No patient was found with 3-4 mutations or severe symptoms in our region. Contrarily to the diagnosis of other diseases, our results does not support that routine neonatal screening for alpha-thalassemia has any clinical impact in our community

[Clinical consequences of alpha-thalassemia in the Basque Country, Spain. Impact of neonatal screening]. / Repercusión clínica de la alfa-talasemia en nuestro medio. Impacto del screening neonatal.

INTRODUCTION: Alpha-thalassemia is the most common hemoglobinopathy with a variable clinical manifestation depending on the number of allele mutations (asymptomatic/mild anemia if 1-2 allele mutations, severe disease if 3-4 allele mutations). A study was conducted from May 2011 on hemoglobinopathies found in the neonatal screening in the autonomous community of the Basque Country (CAPV). OBJECTIVES: To analyze the impact of alpha-thalassemia in this area and the effectiveness of its neonatal screening. METHODS: A review was made of patients with a positive gene study for alpha-thalassemia over a 2-year period (2012-2013) and an analysis was made of the age at diagnosis, ethnic group, analytical result, and treatment. RESULTS: The genetic study was performed on 107 patients, of which 61 had some mutation, with 62% having one allele mutations and 38% with two alleles. The mean age at diagnosis was 31 years, with 28% being younger than eighteen years old. Most of the patients were European with a significant number of Africans (26%) and Arabs (13%). All patients were asymptomatic, and 28% had mild anemia. Two patients were diagnosed by neonatal screening. Most of them did not need any treatment or only required iron therapy. CONCLUSIONS: The detection of one or two alpha gene mutations has no clinical impact, but allows genetic counseling. No patient was found with 3-4 mutations or severe symptoms in our region. Contrarily to the diagnosis of other diseases, our results does not support that routine neonatal screening for alpha-thalassemia has any clinical impact in our community.

[Primary care for diabetic patients: a quality improvement cycle]. / Evaluación de la calidad en cuidados médicos prestados a pacientes diabéticos: un ciclo de mejora.

OBJECTIVE: The aim of this study was to evaluate and improve the quality of medical care provided to diabetic patients following the standards proposed by the American Diabetes Association. MATERIAL AND METHODS: The study was conducted in three phases by analyzing data from the computerized clinical history of a sample of 340 patients. First phase (2010): cross-sectional, descriptive study which assessed the proportion of patients who met the standards related to the screening of diabetes, and goals of control and treatment. Subsequently, health professionals reviewed the results in order to promote the implementation of corrective action. Finally (2012), a new assessment with the same standards was performed. RESULTS: An increase in the number of patients treated with insulin (12.7% in 2010 and 20.2% in 2012) was observed (P < .01). There were also percentage increases in the number of patients who met the screening standards as regards analytical determinations: glycosylated hemoglobin (from 44.4% to 68.2%), lipid profile (47.6%-73.8%), creatinine (32.5% - 73.5%), and albumin-creatinine ratio (9.2%-24.4%) (P < .001). Only 6.4% (CI: 3.2- 9.8) of diabetic patients attained the composite target of glycosylated hemoglobin < 7%, blood pressure < 130/80 mmHg and low-density lipoprotein cholesterol < 100 mg/dl in 2012. CONCLUSIONS: This study shows that medical care has improved the goals related to analytical determinations and the number of insulin-treated diabetic type 2 patients. An optimal level was also maintained in metabolic control of diabetes, but there was still poor control of risk factors for cardiovascular disease.

Evaluación de la calidad en cuidados médicos prestados a pacientes diabéticos: un ciclo de mejora / Primary care for diabetic patients: A quality improvement cycle

Objetivo: Evaluar y mejorar la calidad de los cuidados médicos prestados a pacientes diabéticos a través de los estándares propuestos por la Asociación Americana de Diabetes. Material y métodos: El estudio se realizó en 3 fases, sobre una población diana de 2.795 pacientes diabéticos, analizando los registros en la historia clínica informatizada de una muestra de 340 individuos. Primera fase (año 2010): estudio transversal, descriptivo, donde se evaluó el cumplimiento de estándares relacionados con el cribado, metas de control y tratamiento de la diabetes. En la segunda realizamos una intervención basada en sesiones grupales sobre los profesionales sanitarios. Finalmente evaluamos el cumplimiento de los mismos estándares, durante la asistencia prestada en 2012. Resultados: El porcentaje de diabéticos tipo 2 tratados con insulina se incrementó desde el 12,7% en 2010 al 20,2% en 2012 (p < 0,01). También aumentó el porcentaje de pacientes en los que se cumplió el cribado relacionado con determinaciones analíticas: hemoglobina glucosilada (del 44,4% al 68,2%), perfil lipídico (del 47,6% al 73,8%), creatinina (del 32,5% al 73,5%) y cociente albúmina-creatinina (del 9,2% al 24,4%) (p < 0,001). El 4,2% (IC: 0,9%-7,1%) de los diabéticos alcanzaron, a la vez, las metas recomendadas de hemoglobina glucosilada, tensión arterial y lipoproteínas de baja densidad en 2010, mientras que en el año 2012 fueron el 6,4% (IC: 3,2%-9,8%). Conclusiones: Mejoramos el cribado de parámetros analíticos, insulinizamos más a los pacientes con diabetes tipo 2, pero conseguimos un pobre control de enfermedades, asociadas a la diabetes, que suponen importantes factores de riesgo cardiovascular (AU)

Objective: The aim of this study was to evaluate and improve the quality of medical care provided to diabetic patients following the standards proposed by the American Diabetes Association. Material and methods. The study was conducted in three phases by analyzing data from the computerized clinical history of a sample of 340 patients. First phase (2010): cross-sectional, descriptive study which assessed the proportion of patients who met the standards related to the screening of diabetes, and goals of control and treatment. Subsequently, health professionals reviewed the results in order to promote the implementation of corrective action. Finally (2012), a new assessment with the same standards was performed. Results: An increase in the number of patients treated with insulin (12.7% in 2010 and 20.2% in 2012) was observed (P < .01). There were also percentage increases in the number of patients who met the screening standards as regards analytical determinations: glycosylated hemoglobin (from 44.4% to 68.2%), lipid profile (47.6%-73.8%), creatinine (32.5% - 73.5%), and albumin-creatinine ratio (9.2%-24.4%) (P < .001). Only 6.4% (CI: 3.2- 9.8) of diabetic patients attained the composite target of glycosylated hemoglobin < 7%, blood pressure < 130/80 mm Hg and low-density lipoprotein cholesterol < 100 mg/dl in 2012. Conclusions: This study shows that medical care has improved the goals related to analytical determinations and the number of insulin-treated diabetic type 2 patients. An optimal level was also maintained in metabolic control of diabetes, but there was still poor control of risk factors for cardiovascular disease (AU)