Abstract Introduction During pregnancy, women are at an increased risk of developing iron-deficiency anemia. Objective The objective of this study was to assess the diagnostic performance of the reticulocyte hemoglobin equivalent (RET-He) in the early detection of iron-deficiency anemia in a group of pregnant women and to establish a reference range for this parameter in a group of control individuals. Method: A total of 60 patients and 130 control subjects were included in the study. Blood samples collected from the subjects were submitted to a complete blood count and a serum ferritin test and the data were analyzed by comparing the groups and ROC curves. Results The reference range found for the RET-He was between 29.75pg and 38.24pg, with a median of 35pg. The receiver operating characteristic (ROC) curve analysis for the ferritin parameter showed an area under the curve of 0.732 for the RET-He, 0.586 for hemoglobin, 0.551 for the mean corpuscular hemoglobin concentration and 0.482 for the mean corpuscular volume. Conclusion Early diagnosis of iron deficiency anemia in pregnancy is essential to prevent damage to both maternal and fetal health. The RET-He presents an excellent potential as an auxiliary tool for the diagnosis of iron deficiency in pregnant women.

ABSTRACT Objective: To determine the incidence of congenital hypothyroidism (CH) over a 10-year period at the Reference Service in Neonatal Screening of the state of Rio Grande do Sul (RSNS-RS). Subjects and methods: Historical cohort study including all newborns screened for CH by the RSNS-RS from January 2008 until December 2017. Data of all newborns with neonatal TSH (neoTSH; heel prick test) values ≥ 9 mIU/L were collected. According to neoTSH values, the newborns were allocated into two groups: Group 1 (G1), comprising newborns with neoTSH ≥ 9 mIU/L and serum TSH (sTSH) < 10 mIU/L, and Group 2 (G2), comprising those with neoTSH ≥ 9 mIU/L and sTSH ≥ 10 mIU/L. Results: Of 1,043,565 newborns screened, 829 (0.08%) had neoTSH values ≥ 9 mIU/L. Of these, 284 (39.3%) had sTSH values < 10 mIU/L and were allocated to the G1 group, while 439 (60.7%) had sTSH ≥ 10 mIU/L and were allocated to the G2 group, and 106 (12.7%) were considered missing data. The overall incidence of CH was 42.1 per 100,000 newborns screened (95% confidence interval [CI] 38.5-45.7/100,000) or 1:2377 screened newborns. The sensibility and specificity of neoTSH ≥ 9 mIU/L were 97% and 11%; of neoTSH 12.6 mUI/L, 73% and 85% respectively. Conclusion: In this population, the incidence of permanent and transitory CH was 1:2377 screened newborns. The neoTSH cutoff value adopted during the study period showed excellent sensibility, which matters for a screening test.

Abstract Sickle cell disease (SCD) is the most common inherited hematological disease worldwide. The benefits of diagnosis and early intervention have led to the wide dissemination of public health programs worldwide. Through neonatal screening programs, it is possible to reduce morbidity and mortality in the first 5 years of life. The prophylactic use of penicillin, the anti-pneumococcal vaccine and other intensive care, increase the survival and quality of life of people with SCD. The aim of this study is to present the 20-year history of screening for hemoglobinopathies in Brazil and its challenges. From 2001 to 2019, an average of 2,400,000 children were screened per year nationwide, with the coverage being of 82,16%. The screening of 54,9% of newborns is collected up to their 5th day of life. The prevalence of SCD was 1:2,263 newborns; therefore, it was the second most-common disease detected by the program of Brazil, being only after hypothyroidism (1/2,175 live births). The healthcare system should provide the necessary infrastructure to confirm the diagnosis of newborns and to provide appropriate counseling and treatment. The early diagnosis and treatment, as well as the follow-up with a multidisciplinary team, are fundamental to the survival rate and the quality of life of patients.

Abstract The collection of dried blood spots (DBSs) on filter paper has been a powerful tool in newborn screening (NBS) programs and in other fields. However, filter paper has been associated with some level of imprecision due to the filter paper matrix effect. In order to minimize measurement variations, these interferences should be evaluated by NBS assays. The aim of this study is to evaluate the performance of genetic screening processor (GSP) equipment in comparison with a widely used AutoDELFIA and to discuss the limitations and advantages of this new technology in NBS. We evaluated the performance of 3 NBS assays in DBS using GSP in comparison with AutoDELFIA. To determine the inaccuracy and the intra-assay precision, a comparative study and a replication experiment were performed. In the comparative study, human thyroid-stimulating hormone (hTSH) assay showed the highest correlation coefficient, followed by 17α-OH-progesterone and immunoreactive trypsinogen (IRT) assays. The results of the present study suggest that the GSP equipment and kits are suitable for implementation and have acceptable performance for NBS routine. Genetic screening processor assay tends to underestimate hTSH and IRT concentrations in the clinically relevant range when compared to AutoDELFIA assays. More studies are necessary to reevaluate cutoff values. Furthermore, the equipment has advantages when compared with AutoDELFIA, such as methodology with more specificity, reduction in the processing time, and randomized routine. This helps promoting faster dynamic technical processes and faster report generation.

A triagem neonatal da fibrose cística (FC) é realizada por meio da quantificação da tripsina imunorreativa. O objetivo desse estudo foi validar o kit AutoDELFIA® Neonatal immunoreactive trypsinogen. Realizou-se um estudo comparativo entre dois equipamentos. Como resultado, encontrou-se o erro aleatório = 26,6%erro sistemático = 4,9% e erro total = 31,5%. Diversos fatores contribuem para a variação dos ensaios em papel filtro, como efeito cromatográfico, efeito do hematócrito e efeito do volume total de sangue. Esses fatores devem sem considerados na avaliação dos resultados da validação. O proposto kit pode ser implantado na rotina de triagem neonatal para FC.

Neonatal screening programs for cystic fibrosis (CF) usually consist of an immunoreactive trypsinogen assay. The objective of this study was to validate the AutoDELFIA® Neonatal immunoreactive trypsinogen kit. We carried out a comparative study between two equipments. The following results were yielded: random error = 26.6%systematic error = 4.95% and analytical error = 31.5%. Several factors contributed to the assay variations in dried blood spot, namely chromatographic, hematocrit and total blood volume effects. These factors should be taken into account in the assessment of validation results. The studied kit can be deployed in neonatal screening routine.

INTRODUÇÃO: O traço falciforme é a presença em heterozigose da hemoglobina S (HbS). A partir de junho de 2004, por meio da RDC 153/04, tornou-se obrigatória a triagem de hemoglobinas anormais em doadores de sangue. OBJETIVO: O objetivo deste estudo foi a comparação de diferentes metodologias de triagem utilizadas nos bancos de sangue para a detecção da HbS. Material e método: No período de abril de 2007 a abril de 2008, foram realizados três métodos de detecção de HbS em 4.108 doadores de sangue aptos que se apresentaram ao banco de sangue do Hospital Universitário de Santa Maria (HUSM). O estudo comparativo entre as metodologias incluiu os testes de solubilidade e de gel-centrifugação, tendo como referência de positividade a presença de HbS na eletroforese de hemoglobina. RESULTADOS: Dos 4.108 doadores estudados, 23 (0,56%) apresentaram resultado positivo para HbS e dois (0,05%) para HbC. Das amostras positivas para HbS detectadas por eletroforese qualitativa, 22 (95,6%) foram detectadas pelo teste de solubilidade e 20 (86,9%) pelo de gel-centrifugação. CONCLUSÃO: A eletroforese de hemoglobinas representou a melhor metodologia na identificação de hemoglobinas variantes e, portanto, deve ser valorizada quando se trata de diagnóstico para triagens em bancos de sangue pelo seu grau de sensibilidade, minimizando ao máximo os resultados falsos negativos e garantindo a qualidade do sangue que estará sendo utilizado.

INTRODUCTION: The sickle cell trait is the presence of hemoglobin S (HbS) in heterozygosity. According to RDC regulation 153/04, abnormal hemoglobin screening has become mandatory in blood donation samples since June 2004. OBJECTIVE: The aim of this study was to compare different screening methods used in blood banks for HbS detection. Material and method: From April 2007 to April 2008, three HbS detection methods were applied in 4,108 suitable blood samples from the blood bank of the University Hospital of Santa Maria (HUSM). The comparative study among the methods comprised solubility tests and gel-centrifuge (ID-HbS). Furthermore, the positivity reference was the presence of HbS on hemoglobin electrophoresis. RESULTS: Twenty-three (0.56%) out of 4,108 samples showed positivity for HbS and two (0.05%) showed positivity for HbC. Twenty-two (95.6%) out of 23 HbS positive samples determined through qualitative electrophoresis were detected by solubility test and 20 (86.9%) were detected by gel-centrifugation test. CONCLUSION: Hemoglobin electrophoresis proved the best method in the identification of hemoglobin variants and, therefore, worthwhile when it comes to diagnostic screening in blood banks due to its high sensitivity, which keeps false-negative results to a minimum and ensures blood quality.

A leucemia linfóide aguda (LLA) é a forma mais comum de câncer na infância, compreendendo 70% dos casos; em adultos a incidência é de apenas 20%. A abordagem inicial do diagnóstico consiste no exame citomorfológico do sangue periférico e da medula óssea. O estudo imunofenotípico eleva para 99% o percentual de casos corretamente classificados, permitindo identificar a linhagem celular (T ou B) e os diferentes estágios de maturação da célula. Aproximadamente 20% dos casos são de origem de célula T; 75%, precursores de célula B; e 5%, de célula B madura. As técnicas citogenéticas têm contribuído de maneira fundamental para a compreensão da biologia molecular e do tratamento da LLA. As anormalidades cromossômicas, quando associadas ao painel de imunofenotipagem, constituem o parâmetro mais importante para a classificação das leucemias, e, juntamente com outros fatores clínicos e laboratoriais, possibilitam a estratificação dos pacientes em diferentes grupos de risco, tendo importância fundamental para determinar o prognóstico e estabelecer o tratamento adequado. O objetivo deste trabalho é fazer uma revisão bibliográfica dos métodos laboratoriais através dos critérios morfológicos, citoquímicos, imunológicos, citogenéticos e de genética molecular, que são úteis para a classificação e o diagnóstico das leucemias linfóides agudas.

Acute lymphoid leukemia (ALL) is the commonest type of cancer in childhood, representing 70% of cases. In adults its incidence is 20% only. The initial diagnosis approach consists of a peripheral blood and bone marrow cytomorphological examination. The rate of correctly classified cases is increased up to 99% through immunophenotypic study, which allows to identify the cell line (T or B) and the different stages of cell maturation. Nearly 20% derive from T cells, 75% from B-cell precursors and 5% from mature B-cells. The cytogenetic techniques have markedly contributed to the better understanding of molecular biology and ALL treatment. Chromosomal abnormalities, associated with the immunophenotyping panel, are the most important parameter for leukemia classification. Together with clinical and in vitro factors, this parameter allows the patients stratification in different risk groups, which is of great importance for establishing a prognosis and a suitable treatment. The aim of this study was to perform a bibliographic review of the laboratory methods by morphological, cytochemical, immune, cytogenetic and molecular genetic patterns, which are useful tools for acute lymphoid leukemia classification and diagnosis.