{"id":27529,"date":"2025-06-24T16:40:54","date_gmt":"2025-06-24T13:40:54","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/hemocromatoza-ereditara-detectia-mutatiei-c282y-la-nivelul-genei-hfe\/"},"modified":"2026-06-19T18:28:49","modified_gmt":"2026-06-19T15:28:49","slug":"hemocromatoza-ereditara-detectia-mutatiei-c282y-la-nivelul-genei-hfe","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/hemocromatoza-ereditara-detectia-mutatiei-c282y-la-nivelul-genei-hfe\/","title":{"rendered":"Hemocromatoza ereditara &#8211; detectia mutatiei C282Y la nivelul genei HFE"},"content":{"rendered":"<p>Testul identific\u0103 muta\u021bia <strong>C282Y<\/strong> din gena <strong>HFE<\/strong>, considerat\u0103 cea mai frecvent implicat\u0103 variant\u0103 \u00een hemocromatoza ereditar\u0103.<\/p>\n<p>Hemocromatoza este o boal\u0103 genetic\u0103 de metabolism caracterizat\u0103 prin absorb\u021bia excesiv\u0103 a fierului la nivel intestinal \u0219i acumularea progresiv\u0103 a acestuia \u00een organe vitale, \u00een special:<\/p>\n<ul>\n<li>ficat<\/li>\n<li>pancreas<\/li>\n<li>inim\u0103<\/li>\n<li>articula\u021bii<\/li>\n<\/ul>\n<p>Muta\u021bia <strong>C282Y<\/strong> determin\u0103 o disfunc\u021bie a proteinei HFE, cu perturbarea regl\u0103rii hepcidinei \u0219i cre\u0219terea absorb\u021biei intestinale de fier.<\/p>\n<p>Persoanele <strong>homozigote C282Y\/C282Y<\/strong> prezint\u0103 cel mai mare risc de dezvoltare a bolii clinice, \u00een timp ce heterozigo\u021bii pot avea forme mai u\u0219oare sau asimptomatice, \u00een func\u021bie de al\u021bi factori genetici \u0219i metabolici.<\/p>\n<h3>Indica\u021bii de testare<\/h3>\n<ul>\n<li>Suspiciune de hemocromatoz\u0103 ereditar\u0103<\/li>\n<li>Feritin\u0103 crescut\u0103 persistent<\/li>\n<li>Satura\u021bia transferinei crescut\u0103<\/li>\n<li>Enzime hepatice modificate f\u0103r\u0103 cauz\u0103 evident\u0103<\/li>\n<li>Hepatopatii cronice de cauz\u0103 neclar\u0103<\/li>\n<li>Diabet zaharat asociat cu suprainc\u0103rcare de fier<\/li>\n<li>Artropatii inexplicabile<\/li>\n<li>Istoric familial de hemocromatoz\u0103<\/li>\n<li>Screening genetic pentru metabolismul fierului<\/li>\n<\/ul>\n<h3>Cui se adreseaz\u0103<\/h3>\n<ul>\n<li>Pacien\u021bilor cu suspiciune clinic\u0103 sau biologic\u0103 de suprainc\u0103rcare cu fier<\/li>\n<li>Persoanelor cu istoric familial de hemocromatoz\u0103<\/li>\n<li>Pacien\u021bilor cu boli hepatice cronice inexplicabile<\/li>\n<li>Medicilor gastroenterologi, hematologi \u0219i interni\u0219ti<\/li>\n<li>Persoanelor incluse \u00een screening genetic HFE<\/li>\n<\/ul>\n<h3>Metodologie de testare<\/h3>\n<ul>\n<li>Extrac\u021bie ADN din s\u00e2nge periferic (EDTA)<\/li>\n<li><strong>Genotipare molecular\u0103 a muta\u021biei C282Y (rs1800562) prin metode de tip PCR \u00een timp real \/ allelic discrimination sau tehnici echivalente <\/strong><\/li>\n<li>Detectarea prezen\u021bei sau absen\u021bei variantei patogene<\/li>\n<li>Analiz\u0103 calitativ\u0103 (pozitiv\/negativ sau heterozigot\/homozigot)<\/li>\n<li>Interpretare genetic\u0103 \u00een context clinic \u0219i biochimic<\/li>\n<\/ul>\n<h3>Beneficii \u0219i importan\u021b\u0103 clinic\u0103<\/h3>\n<ul>\n<li>Identific\u0103 principala muta\u021bie implicat\u0103 \u00een hemocromatoz\u0103 ereditar\u0103<\/li>\n<li>Permite diagnosticul genetic precoce<\/li>\n<li>Ajut\u0103 la prevenirea complica\u021biilor prin interven\u021bie timpurie<\/li>\n<li>Ghideaz\u0103 monitorizarea metabolismului fierului<\/li>\n<li>Sprijin\u0103 evaluarea riscului familial<\/li>\n<li>Permite consiliere genetic\u0103 adecvat\u0103<\/li>\n<li>Contribuie la diferen\u021bierea \u00eentre formele genetice \u0219i non-genetice de supra\u00eenc\u0103rcare cu fier<\/li>\n<\/ul>\n<h3>Analize asociate recomandate<\/h3>\n<h3>Metabolismul fierului<\/h3>\n<ul>\n<li>Feritin\u0103 seric\u0103<\/li>\n<li>Fier seric<\/li>\n<li>Transferrin\u0103 \u0219i satura\u021bia transferrinei<\/li>\n<li>CRP<\/li>\n<\/ul>\n<h3>Genetic HFE complet<\/h3>\n<ul>\n<li>HFE H63D<\/li>\n<li>HFE S65C<\/li>\n<li>Panel complet hemocromatoz\u0103 ereditar\u0103 (HFE, TFR2, HAMP, SLC40A1)<\/li>\n<\/ul>\n<h3>Evaluare hepatic\u0103<\/h3>\n<ul>\n<li>ALT, AST, GGT<\/li>\n<li>Ecografie hepatic\u0103<\/li>\n<li>FibroScan (elastografie hepatic\u0103)<\/li>\n<\/ul>\n<h3>Prob\u0103 recoltat\u0103 \/ condi\u021bii analiz\u0103<\/h3>\n<h3>S\u00e2nge total EDTA<\/h3>\n<ul>\n<li>Nu necesit\u0103 condi\u021bii speciale de recoltare<\/li>\n<\/ul>\n<h3>Documente necesare<\/h3>\n<ul>\n<li>Bilet de trimitere \/ recomandare medical\u0103<\/li>\n<li>Analize biologice relevante (feritin\u0103, fier seric etc.)<\/li>\n<li>Istoric familial (dac\u0103 exist\u0103)<\/li>\n<\/ul>\n<h3>Denumiri alternative<\/h3>\n<ul>\n<li>HFE C282Y mutation test<\/li>\n<li>rs1800562 genotyping<\/li>\n<li>Hereditary hemochromatosis type 1 genetic test<\/li>\n<li>HFE gene mutation analysis<\/li>\n<li>Iron overload genetic screening<\/li>\n<li>HFE C282Y variant detection<\/li>\n<li>Molecular test for C282Y mutation<\/li>\n<li>Hemochromatosis genetic marker C282Y<\/li>\n<li>HFE genotyping assay Biomnis<\/li>\n<li>Classical hemochromatosis genetic test<\/li>\n<\/ul>\n<h3>Particularit\u0103\u021bi ale testului<\/h3>\n<p>Muta\u021bia <strong>C282Y<\/strong> este principala variant\u0103 patogenic\u0103 asociat\u0103 cu hemocromatoza ereditar\u0103 tip 1. Prezen\u021ba acesteia, \u00een special \u00een form\u0103 homozigot\u0103, are valoare diagnostic\u0103 important\u0103, \u00eens\u0103 expresia clinic\u0103 este influen\u021bat\u0103 de factori genetici \u0219i de mediu. Interpretarea trebuie corelat\u0103 cu parametrii metabolismului fierului \u0219i evaluarea clinic\u0103 de specialitate.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Analiz\u0103 genetic\u0103 de tip <strong>genotipare HFE<\/strong>, care detecteaz\u0103 muta\u021bia <strong>C282Y (rs1800562)<\/strong>, principala variant\u0103 asociat\u0103 cu <strong>hemocromatoza ereditar\u0103 de tip 1<\/strong>. Testul evalueaz\u0103 riscul genetic de <strong>suprainc\u0103rcare cu fier<\/strong>.<\/p>\n","protected":false},"featured_media":0,"template":"","meta":{"_acf_changed":false,"inline_featured_image":false},"product_brand":[],"product_cat":[1209,3166,2876],"product_tag":[],"class_list":["post-27529","product","type-product","status-publish","product_cat-analize","product_cat-diagnostic-genetic","product_cat-serviciu-laborator","pa_body-parts-ficat-si-colecist","pa_body-systems-sistem-digestiv","pa_medical-conditions-hemocromatoza","first","instock","sale","virtual","purchasable","product-type-simple"],"acf":[],"aioseo_notices":[],"aioseo_head":"\n\t\t<!-- All in One SEO Pro 5.0.1 - aioseo.com -->\n\t<meta name=\"description\" content=\"Analiz\u0103 genetic\u0103 de tip genotipare HFE, care detecteaz\u0103 muta\u021bia C282Y (rs1800562), principala variant\u0103 asociat\u0103 cu hemocromatoza ereditar\u0103 de tip 1. 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