ABSTRACT Acute promyelocytic leukemia is a subtype of acute myeloid leukemia, characterized by the presence of neoplastic promyelocytes, due to the reciprocal balanced translocation between chromosomes 15 and 17. Currently, with the use of agents that act directly on this molecular change, such as all-trans retinoic acid and arsenic trioxide, APL has shifted from a highly mortal to a curable disease. However, some cases are still at high risk of death, especially early death, and acquiring a better understanding of the clinical and biological factors involving APL is needed to correctly identify and treat such cases. The early suspected diagnosis and prompt initiation of the target therapy are important for better response rates. The follow-up and outcomes, using real-life data from 44 consecutive APL patients, were studied between 2001 and 2013. The overall survival rate was 82.7% and early death was 16%. Almost all patient deaths were due to severe bleeding, which was confirmed by multivariate analysis, as the most important prognostic factor leading to death. A better understanding the pathogenesis of the hemorrhagic complications in APL is needed, as well as the risk factors associated with early death in APL patients, as this has become synonymous with overall mortality.

ABSTRACT BACKGROUND: According to the 2008 World Health Organization classification, mature B-cell neoplasms are a heterogeneous group of diseases that include B-cell lymphomas and plasma cell disorders. These neoplasms can have very different clinical behaviors, from highly aggressive to indolent, and therefore require diverse treatment strategies. OBJECTIVE: The aim of this study was to assess the profile of 93 patients diagnosed with mature B-cell neoplasms monitored between 2011 and 2014. METHODS: A review of patients' charts was performed and laboratory results were obtained using the online system of the Universidade Federal de Santa Catarina. RESULTS: The study included 93 adult patients with mature B-cell neoplasms. The most frequent subtypes were multiple myeloma, chronic lymphocytic leukemia, diffuse large B-cell lymphoma, follicular lymphoma, and Burkitt's lymphoma. The median age at diagnosis was 58 years with a male-to-female ratio of 1.3:1. There were statistical differences in terms of age at diagnosis, lactate dehydrogenase activity and Ki-67 expression among the subtypes of B-cell lymphoma. According to the prognostic indexes, the majority of multiple myeloma patients were categorized as high risk, while the majority of chronic lymphocytic leukemia patients were classified as low risk. CONCLUSIONS: This study demonstrates the profile of patients diagnosed with mature B-cell neoplasms in a south Brazilian university hospital. Of the B-cell lymphoma, Burkitt's lymphoma presented particular features regarding lactate dehydrogenase activity levels, Ki-67 expression, age at diagnosis, and human immunodeficiency virus infection.

Estudos realizados na população brasileira revelam que, no Brasil, existem aproximadamente 10 milhões de indivíduos heterozigotos para os genes da Hb S, da Hb C e da talassemia beta. Embora mais de 700 hemoglobinas variantes tenham sido descritas, apenas a forma homozigótica para HbS apresenta expressão clínica mais evidente; no entanto, as formas heterozigóticas HbAS e HbSC também representam um problema de saúde pública. Em geral, os indivíduos heterozigóticos desconhecem o fato de serem portadores assintomáticos (AS, AC) e, por isso, facilitam a propagação desses genes anômalos e sua interação com outras hemoglobinas variantes, talassemias, enzimopatias e esferocitoses. Como medida de prevenção e controle das hemoglobinopatias no Brasil, o Ministério da Saúde instituiu a portaria 822/01, que inclui a triagem de hemoglobinopatias no programa nacional de triagem neonatal (PNTN). O objetivo deste trabalho foi analisar a prevalência das hemoglobinopatias em crianças nascidas no período de janeiro a junho de 2003 no estado de Santa Catarina. Do total de 40.028 amostras analisadas, 399 (1%) apresentaram hemoglobinopatias, e, dessas, 88,47% apresentaramm o fenótipo AS; 7,76% AC; 2,25% AD; 0,75% SS e 0,5% SC. A triagem de hemoglobinopatias é uma análise importante para a prevenção das hemoglobinopatias, as quais representam um problema de saúde pública.

Studies performed in the Brazilian population show that in Brazil there are around 10 million heterozygote individuals for the Hb S and Hb C genes and beta thalassemia. Although, over 700 hemoglobin variants have been described, only homozygous states for Hb S present significant and evident clinical disorders. Furthermore, the heterozygous Hb AS and Hb SC forms have important public health aspects. In general heterozygous individuals of hemoglobin variants (AS, AC) do not know that they have hemoglobin disorders because they are asymptomatic, therefore they facilitate the spread of these anomalous genes and interactions with other hemoglobin variants: thalassemias, enzymopathies and spherocytosis. As a preventive measure for hemoglobinopathy control, the Brazilian Health Ministry instituted a Directive that includes hemoglobinopathies in the National Neonatal Screening Program (PNTN). The aim of this work was to analyze the incidence of the hemoglobinopathies in newborn infants from January to June, 2003 in the State of Santa Catarina. A total of 40,028 samples from newborn infants were analyzed, 399 (1%) presented hemoglobinopathies as follows: 88.47% AS; 7.76% AC; 2.25% AD; 0.75% SS and 0.5% SC phenotypes. Screening for hemoglobinopathies represents an important tool for the prevention of hemoglobinopathies, which is a public health problem in Brazil.