Embora as mutações genéticas observadas na hemocromatose não sejam incomuns na população geral, somente um pequeno subconjunto de pacientes com a mutação desenvolverá os sintomas e um subconjunto ainda menor desenvolverá doença avançada.[23]Allen KJ, Gurrin LC, Constantine CC, et al. Iron-overload-related disease in HFE hereditary hemochromatosis. N Engl J Med. 2008 Jan 17;358(3):221-30.
http://www.nejm.org/doi/full/10.1056/NEJMoa073286#t=article
http://www.ncbi.nlm.nih.gov/pubmed/18199861?tool=bestpractice.com
[52]Olynyk JK, Hagan SE, Cullen DJ, et al. Evolution of untreated hereditary hemochromatosis in the Busselton population: a 17-year study. Mayo Clin Proc. 2004 Mar;79(3):309-13.
http://www.ncbi.nlm.nih.gov/pubmed/15008603?tool=bestpractice.com
[53]Andersen RV, Tybjaerg-Hansen A, Appleyard M, et al. Hemochromatosis mutations in the general population: iron overload progression rate. Blood. 2004 Apr 15;103(8):2914-9.
http://www.bloodjournal.org/content/103/8/2914.full
http://www.ncbi.nlm.nih.gov/pubmed/15070663?tool=bestpractice.com
Como tal, as principais diretrizes não recomendam o rastreamento da população geral assintomática; no entanto, o rastreamento de familiares de pacientes com hemocromatose é apoiada pela American Association for the Study of Liver Diseases, pelo American College of Gastroenterology, pela British Society for Haematology e pela European Association for the Study of the Liver.[4]Kowdley KV, Brown KE, Ahn J, et al. Correction: ACG clinical guideline: hereditary hemochromatosis. Am J Gastroenterol. 2019 Dec;114(12):1927.
http://www.ncbi.nlm.nih.gov/pubmed/31724994?tool=bestpractice.com
[7]Kowdley KV, Brown KE, Ahn J, et al. ACG clinical guideline: hereditary hemochromatosis. Am J Gastroenterol. 2019 Aug;114(8):1202-18.
https://journals.lww.com/ajg/fulltext/2019/08000/acg_clinical_guideline__hereditary_hemochromatosis.11.aspx
http://www.ncbi.nlm.nih.gov/pubmed/31335359?tool=bestpractice.com
[8]European Association for the Study of the Liver. EASL clinical practice guidelines on haemochromatosis. J Hepatol. 2022 Aug;77(2):479-502.
https://www.journal-of-hepatology.eu/article/S0168-8278(22)00211-2/fulltext
http://www.ncbi.nlm.nih.gov/pubmed/35662478?tool=bestpractice.com
[54]Bacon BR, Adams PC, Kowdley KV, et al. Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases. Hepatology. 2011 Jul;54(1):328-43.
http://onlinelibrary.wiley.com/doi/10.1002/hep.24330/full
http://www.ncbi.nlm.nih.gov/pubmed/21452290?tool=bestpractice.com
[55]Fitzsimons EJ, Cullis JO, Thomas DW, et al. Diagnosis and therapy of genetic haemochromatosis (review and 2017 update). Br J Haematol. 2018 May;181(3):293-303.
https://www.doi.org/10.1111/bjh.15164
http://www.ncbi.nlm.nih.gov/pubmed/29663319?tool=bestpractice.com
Espera-se que os irmãos tenham 25% de chance de ter hemocromatose.[8]European Association for the Study of the Liver. EASL clinical practice guidelines on haemochromatosis. J Hepatol. 2022 Aug;77(2):479-502.
https://www.journal-of-hepatology.eu/article/S0168-8278(22)00211-2/fulltext
http://www.ncbi.nlm.nih.gov/pubmed/35662478?tool=bestpractice.com