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616-003.829-056.7-07 (1) |
Patologie. Medicină clinică (6963) |
SM ISO690:2012 TARAN, Natalia, LUPAŞCO, Iulianna, HAREA, Gheorghe. Hemocromatoza ereditară. Caz clinic. In: Sănătate Publică, Economie şi Management în Medicină , 2016, nr. 4(68), pp. 82-86. ISSN 1729-8687. |
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Sănătate Publică, Economie şi Management în Medicină | ||||||
Numărul 4(68) / 2016 / ISSN 1729-8687 /ISSNe 2587-3873 | ||||||
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CZU: 616-003.829-056.7-07 | ||||||
Pag. 82-86 | ||||||
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Hemochromatosis is an autosomal recessive disease transmitted from parents to children. Analysis of HFE gene mutations contribute significantly to the diagnosis of hereditary hemochromatosis. Based on observations from clinical studies it is estimated that 40-70% of C282Y homozygous genotype will develop clinical signs of iron overload. Homozygous status for this mutation is associated with 60-90% of all cases of hereditary hemochromatosis, while the heterozygous status present in only 3-8% of the cases. Increased serum iron levels require further diagnostic evaluation: assessing ferritin, serum transferrin saturation and ferritin coefficient. The increased level of serum ferritin, saturation ratio requires a genetic test (HFE gene) to exclude hemochromatosis. Early detection and initiation of phlebotomy before development of liver cirrhosis may reduce morbidity and extend life expectancy. |
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Cuvinte-cheie hereditary hemochromatosis, serum transferring saturation, ferritin ratio, phlebotomy, serum iron, Ferritin, viral hepatitis |
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