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)