Actualización en Medicina de Familia. Anafilaxia, el riesgo del infradiagnóstico / Up-Date in Family Medicine. Anaphylaxis, the risk of being underdiagnosed

El fenómeno de la anafilaxia fue descrito por primera vez en 1902 por Potier y Richet. Etimológicamente anafilaxia hace referencia a la "falta de protección" en contraposición al término profilaxis. Son reacciones de hipersensibilidad de tipo I o mediadas por IgE, y los agentes etiológicos más frecuentemente implicados son los fármacos, los alimentos y las picaduras de himenópteros. La importancia de la anafilaxia radica en la necesidad de una actitud diagnóstica rápida y una acción terapéutica inmediata. Son reacciones alérgicas de rápida evolución que pueden afectar a diferentes órganos o sistemas, y que implican un potencial riesgo vital. Aunque se describieron hace más de 100 años no se ha llegado a consensuar una definición y unos criterios diagnósticos hasta principios de 2005. Esto ha supuesto históricamente un importante infradiagnóstico y, en consecuencia, una falta de tratamiento adecuado. Por esta misma razón es difícil establecer su prevalencia real

Anaphylaxis was first described in 1902 by Portier and Richet. Etymologically, it refers to "lack of protection" as against the term prophylaxis. Anaphylactic reactions are prototypical allergic reactions that represent an extreme example of type I hypersensitivity (IgE-mediated). Drugs, food and hymenoptera stings are the most frequent causative agents. The importance of anaphylaxis is found in the need for a rapid diagnostic attitude and immediate therapeutic action. They are allergic reactions that occur rapidly and that can affect different organs or systems and imply a potentially fatal risk. Even though anaphylaxis was first described more than 100 years ago, no universal agreement on its definition or criteria for diagnosis was reached until 2005. This has historically meant that it was significantly underdiagnosed, resulting in lack of adequate treatment. That is why it is difficult to establish its real prevalence

[Frequency of molecular alterations in heterozygous beta-thalassemia in southern Spain and their relation to the hematologic phenotype]. / Frecuencia de las alteraciones moleculares de la beta-talasemia heterocigota en el sur de España y su relación con el fenotipo hematológico.

INTRODUCTION: Heterozygous beta-thalassemia manifests hematologically with microcytosis, reduced red blood cell hemoglobin concentration and high hemoglobin A2 levels. Almost all molecular alterations are due to point mutations. We attempt to determinate the frequency of that mutations in the Oriental Andalusia Area, and its relationship with the hematological phenotype. PATIENTS AND METHODS: We have studied 45 heterozygous patients. DNA samples were amplified by PCR, using the printers CD7 and HI1. A 16 Kb fragment corresponding to beta globin gene was obtained and analyzed by Dot Blot assay and hybridized with allelic specific oligonucleotide (ASO) probes to detect the 6 more frequent mutations found in the South of Spain. RESULTS: Codon 39 nonsense mutation (31.1%) was the most frequent finding followed by IVS-1 NT 110 (26.7%). The relationship between hematological parameters and molecular mutations concluded that IVS-I NT 6 mutation developed a minimal anemia. DISCUSSION: From the practical point of view, this study indicates that we were able to detect more than 90% of heterozygous beta-tal. with 5 out of 6 ASO probes used in this work. Thus, our data also provides a further implication in prenatal diagnosis.