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BACKGROUND: We identified no reports of long-term follow-up of participants in hemochromatosis screening programs. We evaluated causes of death and survival in non-C282Y homozygous Canadian participants in the primary care-based hemochromatosis and iron overload screening (HEIRS) study. MATERIAL AND METHODS: Initial screening (IS) included transferrin saturation (TS), serum ferritin (SF), HFE genotyping (C282Y, H63D), and health questionnaire responses. By definition, participants without C282Y or H63D had HFE wt/wt. We linked 20,306 Canadian participants to the Ontario Death Registry for dates and causes of death 9 y after IS. We computed Cox proportional hazards to identify factors with increased death risks and Kaplan-Meier curves to estimate survival of non-C282Y homozygous participants with SF ≤ 1,000 µg/L and > 1,000 µg/dL. RESULTS: There were 19,052 evaluable participants (IS mean age 49 y; 60% women; 93 C282Y homozygotes). There were 988 deaths. Significantly increased hazard ratios for all-cause mortality were positively associated with TS, SF, men, and C282Y homozygosity, and liver disease, diabetes, and heart failure reports. Non-C282Y homozygous participants with SF > 1,000 µg/L had lower survival than those with SF ≤ 1,000 µg/L (p < 0.0001). CONCLUSIONS: Nine years after initial screening, non-C282Y homozygous participants and SF > 1,000 µg/L was associated with decreased survival.

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OBJETIVO: Descrever um caso de intoxicação por ferro em uma criança após ingestão acidental de sulfato ferroso. DESCRIÇÃO DO CASO: Lactente de 11 meses de idade admitida após ingestão acidental de sulfato ferroso (dose desconhecida); apresentava diarréia, desidratação grave e torpor. Inicialmente, foram adotadas medidas para estabilização hemodinâmica, suporte ventilatório e terapia vasopressora. A dosagem de ferro sérico era de 259μmol/L, sendo iniciado desferoxamina. Apesar do tratamento, manteve quadro de instabilidade hemodinâmica, sem melhora após associação de adrenalina. Evoluiu para óbito 50 horas após admissão no hospital por choque refratário. COMENTÁRIOS: O sulfato ferroso é uma medicação amplamente utilizada em nosso meio e de fácil acesso às crianças nos domicílios. No caso descrito, apesar do diagnóstico precoce e dos cuidados prestados prontamente, não foi possível evitar grave evolução para choque refratário e óbito. Portanto, é importante prevenir a intoxicação e conhecer a evolução de uma intoxicação por ferro, uma vez que o tratamento nem sempre evita a má evolução.

OBJECTIVE: To present a case of a child with iron intoxication due to an accidental ingestion of ferrous sulfate. CASE DESCRIPTION: An eleven-month-old child was admitted to the hospital after an accidental ingestion of ferrous sulfate, presenting diarrhea, severe dehydration and drowsiness. Initially, therapies for hemodynamic stabilization, ventilatory support and vasopressor drugs were adopted. Laboratory test revealed high serum iron level (259μmol/L) and deferoxamine administration was started. Despite treatment, the child persisted with hemodynamic instability, without improvement after epinephrine infusion and died 50 hours after admission, due to refractory shock. COMMENTS: The ferrous sulfate is widely used and easily accessible for children in their homes. In this case report, despite prompt diagnosis and early institution of adequate treatment, it was not possible to avoid the development of refractory shock and death. Therefore, it is important to avoid intoxication as well as to improve medical knowledge about the pathophysiology of iron intoxication, acknowledging that treatment not always avoids a poor outcome.

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