{"id":4003,"date":"2022-05-03T11:47:20","date_gmt":"2022-05-03T10:47:20","guid":{"rendered":"https:\/\/apps.nhslothian.scot\/refhelp\/guidelines\/hereditaryhaemochromatosis\/"},"modified":"2023-08-24T12:02:43","modified_gmt":"2023-08-24T11:02:43","slug":"hereditaryhaemochromatosis","status":"publish","type":"page","link":"https:\/\/apps.nhslothian.scot\/refhelp\/guidelines\/clinicalgenetics\/hereditaryhaemochromatosis\/","title":{"rendered":"Hereditary Haemochromatosis"},"content":{"rendered":"\nHereditary Haemochromatosis<\/title><div><div><span><span>\n\n\n\n<p class=\"wp-block-paragraph\">Any clinician based in South-East Scotland can request tests for hereditary haemochromatosis, whether because potentially symptomatic, or because of a family history of the condition. <\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Molecular <strong>and<\/strong> Biochemical testing is recommended<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>B.C & C.E 22-02-23<\/strong><\/p>\n\n\n\n<div class=\"wp-block-getwid-tabs\" data-active-tab=\"0\"><ul class=\"wp-block-getwid-tabs__nav-links\"><\/ul>\n<div class=\"wp-block-getwid-tabs__nav-link\"><span class=\"wp-block-getwid-tabs__title-wrapper\"><a href=\"#\"><span class=\"wp-block-getwid-tabs__title\">Referral Guidelines<\/span><\/a><\/span><\/div><div class=\"wp-block-getwid-tabs__tab-content-wrapper\"><div class=\"wp-block-getwid-tabs__tab-content\">\n<p class=\"wp-block-paragraph\">Flowchart of <a rel=\"noreferrer noopener\" href=\"https:\/\/apps.nhslothian.scot\/files\/sites\/2\/0-HH-Flowchart-Advice-for-asymptomatic-relatives.pdf\" data-type=\"URL\" data-id=\"https:\/\/apps.nhslothian.scot\/files\/sites\/2\/0-HH-Flowchart-Advice-for-asymptomatic-relatives.pdf\" target=\"_blank\">Advice for asymptomatic relatives<\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Molecular testing<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Molecular lab will test for two common variants (C282Y\/Cys282Tyr and H63D\/His63Asp) & report results by 4-6 weeks directly to referring clinician.<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>1x EDTA tube<\/li>\n\n\n\n<li>Complete molecular <strong><a href=\"https:\/\/services.nhslothian.scot\/geneticservice\/wp-content\/uploads\/sites\/54\/2022\/08\/F015-GENETIC-TEST-REQUEST-Haemocromatiosis.doc\" data-type=\"URL\" data-id=\"https:\/\/services.nhslothian.scot\/geneticservice\/wp-content\/uploads\/sites\/54\/2022\/08\/F015-GENETIC-TEST-REQUEST-Haemocromatiosis.doc\" target=\"_blank\" rel=\"noreferrer noopener\">genetic test request form<\/a><\/strong> with\n<ul class=\"wp-block-list\">\n<li>Referring clinician\u2019s details.<\/li>\n\n\n\n<li>Request: \u201cHFE gene test\u201d. <\/li>\n\n\n\n<li>If patient has a relative with hereditary haemochromatosis, provide details of the affected relative\u2019s name, DOB, region where they live, family mutation details (if known).<\/li>\n\n\n\n<li>If patient is being tested due to symptoms, please note this on the lab form.  <\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Biochemistry testing<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Test for transferrin saturation and ferritin levels\n<ul class=\"wp-block-list\">\n<li> brown cap, gel clotted tube sample with local haematology\/ biochemistry form and follow high ferritin guidelines (link below).  <\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Interpretation of genetic test results & guidance on high ferritin levels<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Please see NHS Lothian Haematology Service guidance:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"\/refhelp\/guidelines\/Highferritin\" target=\"_blank\" rel=\"noreferrer noopener\">High ferritin guidelines Lothian<\/a><\/li>\n<\/ul>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-getwid-tabs__nav-link\"><span class=\"wp-block-getwid-tabs__title-wrapper\"><a href=\"#\"><span class=\"wp-block-getwid-tabs__title\">Resources and Links<\/span><\/a><\/span><\/div><div class=\"wp-block-getwid-tabs__tab-content-wrapper\"><div class=\"wp-block-getwid-tabs__tab-content\">\n<p class=\"wp-block-paragraph\"><strong>Patient Information Leaflets<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><a rel=\"noreferrer noopener\" href=\"https:\/\/apps.nhslothian.scot\/files\/sites\/2\/007-Hereditary-Haemochromatosis-HH-Symptoms-and-Treatment.pdf\" data-type=\"URL\" data-id=\"https:\/\/apps.nhslothian.scot\/files\/sites\/2\/007-Hereditary-Haemochromatosis-HH-Symptoms-and-Treatment.pdf\" target=\"_blank\">Symptoms-and-Treatment.pdf<\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><a rel=\"noreferrer noopener\" href=\"https:\/\/apps.nhslothian.scot\/files\/sites\/2\/008-Hereditary-Haemochromatosis-HH-Understanding-the-Genetics-final-vs.pdf\" data-type=\"URL\" data-id=\"https:\/\/apps.nhslothian.scot\/files\/sites\/2\/008-Hereditary-Haemochromatosis-HH-Understanding-the-Genetics-final-vs.pdf\" target=\"_blank\">Understanding-the-Genetics pdf<\/a><\/p>\n\n\n<\/div><\/div>\n<\/div>\n","protected":false},"excerpt":{"rendered":"<p>Hereditary Haemochromatosis Any clinician based in South-East Scotland can request tests for hereditary haemochromatosis, whether because potentially symptomatic, or because of a family history of the condition. Molecular and Biochemical testing is recommended B.C & C.E 22-02-23<\/p>\n","protected":false},"author":2,"featured_media":0,"parent":3799,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_searchwp_excluded":"","footnotes":""},"categories":[70],"class_list":["post-4003","page","type-page","status-publish","hentry","category-hereditaryhaemochromatosis"],"publishpress_future_workflow_manual_trigger":{"enabledWorkflows":[]},"rttpg_featured_image_url":null,"rttpg_author":{"display_name":"NHS Lothian","author_link":"https:\/\/apps.nhslothian.scot\/refhelp\/author\/nhs-lothian\/"},"rttpg_comment":0,"rttpg_category":" <a href=\"https:\/\/apps.nhslothian.scot\/refhelp\/category\/clinicalgenetics\/hereditaryhaemochromatosis\/\" rel=\"tag\">Hereditary Haemochromatosis<\/a>","rttpg_excerpt":"Hereditary Haemochromatosis Any clinician based in South-East Scotland can request tests for hereditary haemochromatosis, whether because potentially symptomatic, or because of a family history of the condition. Molecular and Biochemical testing is recommended B.C & C.E 22-02-23","_links":{"self":[{"href":"https:\/\/apps.nhslothian.scot\/refhelp\/wp-json\/wp\/v2\/pages\/4003","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/apps.nhslothian.scot\/refhelp\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/apps.nhslothian.scot\/refhelp\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/apps.nhslothian.scot\/refhelp\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/apps.nhslothian.scot\/refhelp\/wp-json\/wp\/v2\/comments?post=4003"}],"version-history":[{"count":12,"href":"https:\/\/apps.nhslothian.scot\/refhelp\/wp-json\/wp\/v2\/pages\/4003\/revisions"}],"predecessor-version":[{"id":16157,"href":"https:\/\/apps.nhslothian.scot\/refhelp\/wp-json\/wp\/v2\/pages\/4003\/revisions\/16157"}],"up":[{"embeddable":true,"href":"https:\/\/apps.nhslothian.scot\/refhelp\/wp-json\/wp\/v2\/pages\/3799"}],"wp:attachment":[{"href":"https:\/\/apps.nhslothian.scot\/refhelp\/wp-json\/wp\/v2\/media?parent=4003"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/apps.nhslothian.scot\/refhelp\/wp-json\/wp\/v2\/categories?post=4003"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}