Hemocromatose é um distúrbio hereditário comum do metabolismo do ferro e uma das causas mais importantes de sobrecarga de ferro. A hemocromatose hereditária (HH) é a mais comum doença autossômica em caucasianos e caracteriza-se pelo aumento da absorção intestinal de ferro, o qual resulta em acúmulo progressivo de ferro no organismo. Acomete mais o sexo masculino, na quarta e quinta décadas. A classificação da HH é realizada de acordo com a alteração genética encontrada, sendo os casos divididos em tipos 1, 2A, 2B, 3 e 4, quando a sobrecarga de ferro for associada aos genes HFE, HJV, HAMP, TFR2 e SLC40A1, respectivamente. É caracterizada por sobrecarga de ferro predominantemente no fígado, mas também noutros órgãos, causando a sua disfunção. Tem manifestações clínicas tão variadas como a cirrose hepática, a diabetes mellitus, a tonalidade bronzeada da pele, a artropatia e a disfunção do miocárdio. Sintomas articulares são manifestações frequentes na HH (cerca de 30% dos pacientes), algumas vezes sendo relatados como primeiro sintoma da doença. O rastreamento genético é recomendado para todos os parentes de primeiro grau. O tratamento dietético é importante (dieta com baixo teor de ferro), flebotomias com avaliação da ferritina sérica para determinar o sucesso da terapia, e transplante hepático para cirrose descompensada.
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■ EMQN best practice quidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH)
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■ Hemocromatosis y osteoporosis: a propósito de 4 casos.
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■ Diagnóstico Prénatal de Hemocromatose Neonatal: Será possível?
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■ Examining the clinical use of hemochromatosis genetic testing
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■ Erythrocytapheresis compared wih whole blood phlebotomy for the treatment of hereditary haemochromatosis
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■ Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis
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■ Does haemochromatosis predispose to coelica disease? A study of 29,096 coelica disease patients
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■ How we manage patients with hereditary haemochromatosis
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■ Molecular diagnostic and pathogenesis of hereditary hemochromatosis
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■ How I treat hemochromatosis
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■ Nueva terapia com inmunoglobulinas en um casos de hemocromatosis neonatal
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■ Deficiencia y sobrecarga de hierro: implicaciones en el estado oxidativo y la salud cardiovascular
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■ Alterações moleculares associadas à hemocromatose hereditária
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■ Revisão das manifestações da hemocromatose A propósito de um caso clínico com 25 anos de evolução
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■ Prevalence of C282Y and H63D mutations in the HFE gene of Brazilian individuals with clinical suspicion of hereditary hemochromatosis.
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■ Diabetes como manifestación inicial de Hemocromatosis Hereditaria
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Rev Clin Med Fam, Feb 2008, vol.2, no.3, p.138-139
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■ Aumento de ferro, hemocromatose hereditária e defeitos no gene HFE: o que conhecemos na população brasileira?
Bonini-Domingos, Claudia R.
Rev. Bras. Hematol. Hemoter., Dez 2007, vol.29, no.4, p.341-342
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■ Iron storage disease: facts, fiction, and progress
Ernest Beutler
Blood Cells Mol Dis. 2007; 39(2): 140–147
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■ The myths and realities of hemochromatosis
Melanie D Beaton, Paul C Adams
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■ Analysis of HFE gene mutations and HLA-A alleles in Brazilian patients with iron overload
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■ Cirrose hepática e hemocromatose neonatal secundária associadas à tirosinemia tipo 1: relato de um caso e diagnóstico diferencial com hemocromatose primária hereditária
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■ Prevalence of the hemochromatosis gene mutation in patients with nonalcoholic steatohepatitis and correlation with degree of liver fibrosis.
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Arq. Gastroenterol., Sept 2006, vol.43, no.3, p.224-228
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-28032006000300013&lng=pt&nrm=iso&tlng=en
■ Hemocromatose hereditária e as mutações no gene HFE
Bonini-Domingos, Claudia R.
Rev. Bras. Hematol. Hemoter., Dez 2006, vol.28, no.4, p.241-242
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842006000400002&lng=pt&nrm=iso
■ A diagnostic approach to hemochromatosis
Anthony S Tavill, Paul C Adams
Can J Gastroenterol. 2006 Aug; 20(8): 535–540.
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■ Hemocromatosis hereditária
Rodrigo, L.
Rev. esp. enferm. dig., Nov 2006, vol.98, no.11, p.883-883
http://scielo.isciii.es/scielo.php?script=sci_arttext&pid=S1130-01082006001100009&lng=en&nrm=iso
■ Insuficiencia cardíaca aguda irreversible debido a hemocromatosis cardíaca secundaria a transfusiones múltiples
Martí C, Vicens et al.
Rev. méd. Chile, Abr 2002, vol.130, no.4, p.430-432
https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0034-98872002000400011&lng=en&nrm=iso
■ by Dr Paulo Fernando Leite
Cardiologia – Centro Médico Unimed BH
Rua Gonçalves Dias 202
Belo Horizonte/MG/Brasil
31 30033306 / 40204020
CRMMG: 7026
Email: pfleite1873@gmail.com