ABSTRACT INTRODUCTION Iron deficiency is the main cause of anemia, but infections, inflammation and other factors also play a role. Anemia in women of childbearing age is a risk for pregnancy, childbirth and childhood development during the first two years of life. In Cuba, per WHO definition, anemia is a moderate public health problem in the third trimester of pregnancy and in preschoolers, with a prevalence of 21.6%, in both cases. OBJECTIVE Estimate prevalence of anemia and iron deficiency in women of childbearing age and assess its relation to inflammation, overweight, central adiposity, H. pylori infection and ingestion of iron-rich foods and enhancers of iron absorption. METHODS A cross-sectional, analytical study was performed in 391 women aged 18–40 years in four municipalities of Havana, Cuba, from February through June 2014. Variables (indicators in parentheses) were anemia (hemoglobin), iron deficiency (ferritin), nutritional status (body mass index and waist circumference), inflammation (C-reactive protein, acid alpha 1-glycoprotein and interleukin 6), H. pylori infection and ingestion of iron-rich foods. SPSS 20.0 and Epi Info 7.1.2.0 were used for statistical analysis. RESULTS Anemia prevalence was 24.6% (96/391); iron deficiency, 68% (266/391); H. pylori infection, 47.1% (184/391); inflammation detected by C-reactive protein, 8.4 % (33/391) and by alpha-1-gly-coprotein, 19.9% (78/391). Limited results are included for interleukin 6, which was determined in fewer cases (96). Excess body weight was found in 38.7% (150/388) and increased central adiposity in 26.7% (101/378). Iron deficiency was the main cause of anemia (OR 2.68). Central adiposity, excess body weight, and iron deficiency were positively associated with inflammation (OR of 1.77, 1.23 and 1.72, respectively), whereas H. pylori infection was negatively associated with iron deficiency and anemia (OR 0.75 and 0.94, respectively). Low consumption of meat (OR 1.17) and vegetables (OR 1.36) showed discrete limited positive associations with iron deficiency, as well as low consumption of eggs (OR 1.69) and vegetables (OR 1.56) with anemia. CONCLUSIONS Anemia is a moderate public health problem in the studied group, but with iron deficiency present in two thirds of the population and associated with anemia. Risk factors for anemia and iron deficiency, such as menorrhagia and bacterial or viral infections, should be assessed in women of childbearing age, to support interventions needed to reduce risks in pregnancy and childbirth.

Generalized or GM 1 gangliosidosis is a lysosomal storage disease caused by mutations in the enzyme b-galactosidase gene, mainly characterized by affecting the central nervous system, visceromegalia, osseous dysostosis and facial dimorphism. This is the case of a male nursling born to non-consanguineous parents, 5 months of age, Apgar index of 6/8 due to neonatal hypoxia, with a history of several admissions to hospital because of diarrheal disease and respiratory infections. He was referred to the clinical genetic service since he presented with retarded psychomotor development, macrocrania and hepatomegalia, in addition to hyperchromic skin spots. The physical exam found evidence of possible effects by lysosomal metabolic disease. Among the diseases to be ruled out for the diagnosis were galactosialidosis of similar clinical characteristics and Morquio B disease with different clinical presentation but identical enzymatic deficiency.

La gangliosidosis generalizada tipo 1 es una enfermedad de acúmulo lisosomal producida por mutaciones en el gen de la enzima b-galactosidasa, caracterizada fundamentalmente por toma del sistema nervioso central, la visceromegalia, disostosis ósea y dimorfismo facial. Se presenta el caso de un lactante varón, hijo de padres no consanguíneos, de 5 meses de edad, Apgar 6/8 debido a hipoxia neonatal, con historia de múltiples ingresos por enfermedad diarreica e infecciones respiratorias. Es remitido a la Consulta de Genética Clínica por retardo del desarrollo psicomotor, macrocráneo y hepatomegalia, además de máculas hipercrómicas en piel. En el examen físico se encontraron evidencias de una posible afectación por enfermedad metabólica lisosomal. Entre las enfermedades a descartar estaban la galactosialidosis, de características clínicas similares, y la enfermedad de Morquio, con diferente presentación clínica pero idéntico defecto enzimático.

A aplicação da espectrometria de massas em tandem no diagnóstico dos erros inatos do metabolismo oferece a possibilidade de ampliar os programas de screening neonatal para incluir maior número de doenças. Esta tecnologia permite detectar, com grande sensibilidade, especificidade e rapidez, mais de 30 doenças metabólicas em um mesmo ensaio a partir de um único disco de sangue seco sobre papel de filtro. Para isso é realizada a análise combinada do perfil de aminoácidos e acilcarnitinas sem precisar, geralmente, de sistemas de cromatografia adicionais. O processamento analítico que atualmente è utilizado nos diferentes laboratórios de screening é relativamente homogêneo.

The use of tandem mass spectrometry in the diagnosis of inborn errors of metabolism has the potential to expand newborn screening programmes to include many different diseases. This technique can quickly detect, with great specificity and sensibility, more than 30 diseases using the same punch of dried blood in filter paper through the combined analysis of acylcarnitines and amino acid mass spectra profile. The detection of a particular disease this way could be made without the need of a chromatographic system. The analytical analyses in current use by different screening laboratories are very similar.

La aplicación de la espectrometría de masas en tandem en el diagnóstico de los errores innatos del metabolismo ofrece la posibilidad de ampliar el número de enfermedades que son tamizadas durante el periodo neonatal. Esta tecnología permite detectar, con gran sensibilidad, especificidad y rapidez, más de 30 enfermedades metabólicas en un mismo ensayo a partir de un único disco de sangre seca sobre papel de filtro. Para esto se realiza el análisis combinado del perfil de aminoácidos y acilcarnitinas sin requerir, generalmente, de sistemas de cromatografía adicionales. El procesamiento analítico que actualmente se utiliza en los diferentes laboratorios de tamiz es relativamente homogéneo.

Tandem mass spectrometry (MS/MS) has made it possible to expand neonatal screening programs in different countries. This technology permits multiple and rapid diagnosis of diverse inborn errors of metabolism. However, its use in different programs around the world currently varies widely. There are different criteria for determining whether to include a specific disease in such programs, with some cases employing a more restrictive approach than others, based on the traditional screening principles enunciated by Wilson and Jungner, which will have to be reevaluated in light of this new technology. This article presents an update on the use of MS/MS in different regions of the world in terms of the diseases screened for, and the criteria for including new health problems in neonatal screening programs.

La espectrometría de masas en tándem (MS/MS) ha posibilitado la expansión de los programas de tamizaje neonatal en diferentes países. Esta tecnología permite el diagnóstico múltiple y rápido de diversos errores innatos del metabolismo. Sin embargo, su aplicación en distintos programas en el ámbito mundial es actualmente muy heterogénea. Existen diferentes criterios para determinar si se incluye una enfermedad específica en esos programas, en algunos casos con un enfoque más restrictivo que en otros, de acuerdo con los principios tradicionales de tamizaje enunciados por Wilson y Jungner, los que habrán de ser reevaluados a la luz de esta nueva tecnología. En este trabajo se presenta una actualización sobre el uso de la MS/MS en diferentes regiones del mundo en relación con las enfermedades tamizadas y con los criterios de inclusión de nuevos problemas de salud en los programas de tamizaje neonatal.

In Cuba, the common diseases causing the death of children aged 0-5 are not a health problem anymore, and now the public health has focused its attention on others illnesses that produce death among neonates, children, adolescents and adults, such as the genetic diseases. A program has been designed to develop medical genetics, allowing to make a greater number of diagnoses. Nowadays, the National Center of Medical Genetics and the Cuban Health System besides having a primary care network that starts with the Family Physician, who in the case of a clinical suspicion of some genetic alteration seeks the support of the masters and clinical genetics specialists of every municipality, they also rely on lab tests for the diagnosis of 20 lysosomal diseases available all over the country that will benefit the patients and relatives with this genetic disorder.

En Cuba, las enfermedades comunes que provocaban la muerte de niños entre 0 y 5 años han dejado de constituir un problema de salud, y ahora la salud pública ha dirigido su atención a otras que son causa de muerte entre neonatos, infantes, adolescentes y adultos, como son las enfermedades genéticas, y ha diseñado un programa para el desarrollo de la genética médica que permite un mayor número de diagnósticos. En estos momentos, el Centro Nacional de Genética Médica y el sistema de salud cubano, además de contar con una red de atención primaria, que comienza con el Médico de Familia, el cual se apoya ante una sospecha clínica de alguna alteración genética en los másteres y genetistas clínicos de cada municipio, cuentan con ensayos de laboratorio para el diagnóstico de 20 enfermedades lisosomales, disponibles para todo el país, lo que redundará en beneficio a los pacientes y familiares en los que exista esta alteración genética.