Hereditary hemochromatosis beyond hyperferritinemia: Clinical and laboratory investigation of the patient's profile submitted to phlebotomy in two reference centers in southern Brazil.

Hereditary Hemochromatosis is a disorder characterized by iron deposition in several organs and hyperferritinemia. The most studied variants are linked to the HFE gene. In Brazil, surveys that characterize this population are scarce, with no sampling in the state of Rio Grande do Sul. Our objective is to carry out a data collection focusing on the profile of this population and the influence of the most frequently HFE variants. Two centers were enrolled: Hospital de Clínicas de Porto Alegre and Hospital São Vicente de Paulo. Patients with hyperferritinemia and undergoing phlebotomy were invited. Clinical data were collected, including HFE investigation. Among the descriptive data, the allele frequency of the C282Y variant (0.252) stands out, which differs from the national scenario. Systemic arterial hypertension was the most cited comorbidity. Differences between centers were observed, highlighting higher frequency of H63D cases in HSVP (p<0.01). Genotypes were stratified according to deleterious effect of C282Y variant. Higher transferrin saturation and number of phlebotomies were observed in the C282Y/C282Y cases (p<0.001). Positive family history for hyperferritinemia was more prevalent in compound heterozygotes (p<0.01). The results presented confirm the importance of encouraging such studies and reiterate the need for greater attention to this population.

Cenário das políticas públicas para hemocromatose hereditária no Brasil / Public policy scenario for hereditary hemochromatosis in Brazil

Resumo Hemocromatose hereditária (HH) é a doença genética mais comum em descendentes de europeus e sua epidemiologia em nosso país é incerta. Considerando o cenário das políticas públicas em HH no mundo contemporâneo, este artigo propõe uma reflexão sobre o tema, com objetivo de fazer uma revisão bibliográfica narrativa sobre a abordagem adotada para essa doença em países desenvolvidos e a nível nacional. Além disso, discute sobre o custo-benefício da incorporação do índice de saturação da transferrina (ST) e ferritina sérica (FS) no nosso sistema de saúde, com a finalidade de identificar a HH antes que surjam suas complicações, bem como seu rastreio em campanhas nacionais de prevenção. O valor gasto para o screening da HH com dosagem de ST e FS pelo Sistema Único de Saúde (SUS) é muito menor do que os custos gerados quando o dano por excesso de ferro já está estabelecido. Nos casos suspeitos de HH, deveria ser viabilizada pelo SUS a pesquisa da mutação genética para o gene HFE, que atualmente só está disponível de forma privada. Com essas medidas, modifica-se a história natural da doença, reduzindo a morbimortalidade dos portadores e custos ao sistema público de saúde.

Abstract Hereditary hemochromatosis (HH) is the most common genetic disease among European descendants and its epidemiology in Brazil is unclear. Considering the contemporary public policy scenario aimed at HH, this narrative bibliographic review reflects on the approach adopted for this disease at the national level in developed countries. It also discusses the cost-effectiveness of incorporating transferrin saturation (TS) and serum ferritin (SF) indexes in the Brazilian healthcare system for early HH identification, as well as its screening in national prevention campaigns. The amount spent on ST- and FS-based HH screening by the Brazilian National Health System (SUS) is much lower than the costs generated by the already established iron overload. In suspected cases, genetic mutation research of the HFE gene, which is currently only performed privately, should be made available by the SUS. These measures can modify the natural history, reducing HH morbidity and mortality and its costs to the public health system.

Streptococcus gallolyticus bacteremia detected in apheresis platelets and its link to colonic neoplasms

Introduction: Streptococcus gallolyticus belongs to theStreptococcus bovis complex, and it is a common bacterium colonizing the gastrointestinal tract. Its presence in the blood may suggest an underlying pathology such as a colonic neoplasm. We report herein a case of S. bovis bacteremia in an apheresis platelet donor, review similar cases in the literature, and suggest a flowchart for the management of similar cases in other blood donation centers. Case Presentation: A 61-year-old subject presented to a Hemotherapy Service to make an apheresis platelet donation. On quality control testing, S. gallolyticus was identified in hemoculture, and the donor was called back for follow-up. At first, a new hemoculture was requested, and the patient was referred to the outpatient department of infectious diseases to further investigate pathologies associated with S. gallolyticus. A subsequent colonoscopy investigation evidenced a polypoid structure in the ascending colon. Pathology reported the resected specimen as a low-grade tubular adenoma. Conclusion: Isolation of S. bovis in blood products requires further investigation and should be managed with precision by Hemotherapy Services. A standard protocol for the management of asymptomatic patients with S. bovis positive hemoculture, with the requests of a new blood culture, a colonoscopy, and an echocardiogram is crucial, as it may ensure early diagnosis and reduce morbidity and mortality. (AU)

Construction and analysis of adjuvant materials in the health education process for the blood donation / CONSTRUÇÃO E ANÁLISE DE MATERIAIS ADJUVANTES NO PROCESSO DE EDUCAÇÃO EM SAÚDE PARA A DOAÇÃO DE SANGUE

The insufficiency of blood donors and the limited supply of blood bags is a reality in most Hemotherapy Services, especially in holiday season and delicate periods such as the COVID-19 pandemic. Therefore, the production of materials that encourage donation and clarify doubts about the process is necessary. The aim of this study was to transform a static page for an animated website and create animated videos with informational and motivational content about blood donation. For the development, the open source tools used were Inkscape for formatting vector images, Wick Editor for the creation of animations and export in gif format, and Animator for the animation of the videos.  For the validation, a satisfaction survey was conducted. The analysis of the results shows that both the web page and the videos have the potential to clarify and encourage blood donation in the population.

A insuficiência de doadores de sangue e a limitada oferta de bolsas é uma realidade na maioria dos Serviços de Hemoterapia, principalmente em épocas festivas e em períodos delicados, como a pandemia de COVID-19. Nessa perspectiva, a produção de materiais que incentivem a doação sanguínea e esclareçam as dúvidas sobre tal processo se faz necessária. O objetivo do presente estudo foi transformar uma página estática em uma página web animada e criar vídeos animados com conteúdos informativos e motivacionais sobre a doação de sangue. Para o desenvolvimento, as ferramentas open source utilizadas foram Inkscape para a formatação de imagens vetoriais, Wick Editor para a criação das animações e exportação no formato gif, e Animator para a animação dos vídeos. Para a validação, realizou-se uma pesquisa de satisfação. A análise dos resultados demonstrou que tanto a página web quanto os vídeos apresentam potencial de esclarecer e incentivar a doação de sangue na população.

Association of positive direct antiglobulin test (DAT) with nonreactive eluate and drug-induced immune hemolytic anemia (DIHA).

BACKGROUND AND OBJECTIVES: Drug-induced immune hemolytic anemia is a rare condition that occurs primarily because of drug-induced antibodies, either dependent or independent and positive direct antiglobulin test. Our aim was to evaluate the association of positive DAT with nonreactive eluate and DIHA. MATERIALS AND METHODS: From 2014-2018, we evaluated 159 patients who presented positive DAT with a nonreactive eluate. Laboratory and clinical analyses were performed including HIV, HBV and HCV testing. All patients were exposed to the following drugs: Dipyrone in 63.5 %, Furosemide in 28.9 %, Metoclopramide in 34.6 % and Ondansetron in 41.5 %. RESULTS: Results of DAT showed IgG in 125 (78.4 %) patients and C3d in 24 (15.1 %) with reactions varying from 1+ to 4+. HIV test was positive in 10 (16.1 %) patients, HBV was positive in 3 (4.7 %) and HCV was positive in, 1 (1.5 %). There was no clinical significance when the parameters of hemoglobin, hematocrit, reticulocytes and LDH were evaluated, only a slight increase in bilirubin, especially, in patients with positive DAT reacting 3+/4+ due to IgG and C3d sensitization. Clinical evaluations showed that all patients were asymptomatic. CONCLUSIONS: The association of drugs with positive DAT can be a challenge to transfusion services and immunohematology reference laboratories. There was no evidence of any case of severe hemolysis with clinical repercussion through the clinical and laboratory findings analyzed with the drugs associated with positive DAT. Dipyrone and Furosemide have already been associated with DIHA but there are no studies reporting the association of Metoclopramide and Ondansetron with DIHA.

"Hey assistant, how can I become a donor?" The case of a conversational agent designed to engage people in blood donation.

BACKGROUND: People have insufficient knowledge and many misconceptions about the blood donation process, which hampers donors recruitment. Therefore, novel strategies and resources are needed to provide information and improve these circumstances. OBJECTIVE: We aimed at an interactive conversational agent to explain about blood donation. METHODS: We used the Dialogflow framework to develop a conversational agent and deployed it publicly. Afterward, we conducted an assessment of user experience (UX) with 50 participants who interacted with the agent. We analyzed participants' opinions, the different UX scales, and their association with participants' demographic variables. RESULTS: The conversational agent is available on the Google Assistant platform in Brazil. It is capable of responding to utterances related to 30 common questions and concerns about donating blood. The user can interact and explore freely and in any order by typing, speaking and selecting interface elements. The agent responds by speaking and displaying visual information, some multimedia content, and suggestions for continuing the dialogue. It enables a conversational sequence in which knowledge is imparted to the user in stages as the dialogue evolves. The overall UX assessed was very satisfactory, and people with specific demographic characteristics were more likely to have better UX. All participants had positive opinions and attitudes towards the conversational agent. CONCLUSIONS: A conversational agent is a creative and captivating strategy of imparting knowledge and engage people regarding blood donation. The findings reaffirm the potential of using this technology for information outreach, especially for socially relevant purposes.

Prevalence of red blood cell alloimmunization in multiply transfused patients

Introduction: To analyze the prevalence of alloantibodies in multiply transfused patients. Methods: This study was a retrospective, exploratory and descriptive study with a quantitative approach. The study sample comprised 185 patients transfused at a referral service in the city of Passo Fundo, Rio Grande do Sul, from January 2016 to February 2018. Results: Overall, the antibodies identified were as follows: anti-E in 47 patients (18%), anti-D and anti-K in 28 patients each (11%), anti-C in 21 patients (8.1%), and inconclusive antibody results in 23 patients (8.9%). Females were a majority (55.7%), mean age was 48.8 years and mean quantity of blood transfused was 7.2 bags. Cardiovascular disorders were the most common comorbidities, in 39 patients (21.2%), followed by oncological disorders, in 38 patients (18.4%). Conclusion: Alloimmunization is an important and frequent clinical condition that increases the risk of hemolytic reactions and is associated with significant patient morbidity and mortality. (AU)