{"id":4048,"date":"2022-05-03T11:47:20","date_gmt":"2022-05-03T10:47:20","guid":{"rendered":"https:\/\/apps.nhslothian.scot\/refhelp\/guidelines\/inheritedredcelldisorders\/"},"modified":"2024-02-12T11:37:13","modified_gmt":"2024-02-12T11:37:13","slug":"inheritedredcelldisorders","status":"publish","type":"page","link":"https:\/\/apps.nhslothian.scot\/refhelp\/guidelines\/haematology\/inheritedredcelldisorders\/","title":{"rendered":"Inherited red cell disorders"},"content":{"rendered":"\n<p>Inherited Red Cell Disorders (Adult &amp; Paediatric)<\/p>\n\n\n\n<p>These include:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Haemoglobinopathy eg sickle cell disease or thalassaemia <\/li>\n\n\n\n<li>Enzymopathy eg G6PD or pyruvate kinase deficiency<\/li>\n\n\n\n<li>Membranopathy eg hereditary spherocytosis (HS)<\/li>\n\n\n\n<li>Unstable Haemoglobins eg Hb Koln<\/li>\n\n\n\n<li>Haemoglobin variants.<\/li>\n<\/ul>\n\n\n\n<p><strong>Please note that <\/strong>newborn screening does not detect alpha or beta thalassaemia trait. Routine testing in childhood is not indicated. Consider testing pre-conceptually.<\/p>\n\n\n\n<p><strong><u>The following will need investigation<\/u><\/strong><strong>:<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Patients with red cell microcytosis and hypochromia with or without anaemia who have a normal ferritin level<\/li>\n\n\n\n<li>Patients whose blood film comments recommend haemoglobinopathy or enzymopathy screening<\/li>\n\n\n\n<li>Patients with a known family history of a red cell disorder<\/li>\n\n\n\n<li>Patients with jaundice, reticulocytosis, raised bilirubin and LDH with\/without anaemia<\/li>\n\n\n\n<li>Patients with a family history of haemoglobinopathy or relevant ancestry considering conception or pre-operatively.<\/li>\n<\/ul>\n\n\n\n<p><strong>C.M &amp; L.W 01-02-2<\/strong>4<\/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<h4 class=\"wp-block-heading\">Who to refer:<\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Patients with clinically significant haemoglobinopathies<strong><sup>*<\/sup> <\/strong><strong><\/strong><\/li>\n\n\n\n<li>Couples at high risk of having a child with a clinically significant haemoglobinopathy (prenatally or antenatally)<strong><sup>*<\/sup><\/strong><\/li>\n\n\n\n<li>Patients with confirmed unstable Hb, membranopathy, enzymopathy or whose diagnosis remains unclear<strong><\/strong><\/li>\n\n\n\n<li>Some patients &#8211; eg G6PD &#8211; may not need to be seen and advice only may be required.<strong><\/strong><\/li>\n<\/ul>\n\n\n\n<p><strong><em>*CLINICALLY SIGNIFICANT HAEMOGLOBINOPATHIES INCLUDE:<br><\/em><\/strong><em>Hb SS, Hb SC, Hb S\/D Punjab, Hb S\/O Arab, Hb S\/Lepore, Hb S\/ B thal, Hb S\/DBthal, Beta thalassaemia major, Hb E\/B thal, Hb B thal\/Lepore, Hb H disease, Hb DD, Hb EE.<\/em><\/p>\n\n\n\n<p>If testing identifies a certain or probable haemoglobinopathy trait, then a letter and any actions required will be automatically generated and sent to the requestor and patient or parents.<\/p>\n\n\n\n<h4 class=\"wp-block-heading\">Who not to refer:<\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Haemoglobinopathy carriers if partner does not have a clinically or genetically significant haemoglobinopathy<\/li>\n\n\n\n<li>Adult patients with haemoglobinopathies or thalassemia traits that are confirmed as iron deficient (ferritin less than 30 or low serum iron and transferrin &gt; 3.0 g\/L). They can be prescribed iron supplementation once daily for a period of 6-8 weeks. Ferritin levels should be checked, and iron supplementation discontinued when ferritin levels are &gt;50.&nbsp; Red cell indices may not normalise so iron supplementation should not continue once ferritin levels are &gt;50. The cause of iron deficiency should be established and investigated as appropriate. <\/li>\n\n\n\n<li>Children whose Guthrie results reveal they are haemoglobinopathy carriers (unless specific parental request): please ensure they have received relevant carrier information leaflet from Resource and Links page.<strong><\/strong><\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\">How to refer:<\/h4>\n\n\n\n<p>SCI Gateway to the Department of Haematology, RIE or RHCYP, according to age.<\/p>\n\n\n\n<p><\/p>\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\">Primary Care Management<\/span><\/a><\/span><\/div><div class=\"wp-block-getwid-tabs__tab-content-wrapper\"><div class=\"wp-block-getwid-tabs__tab-content\">\n<p><strong>Please see above \u2013 who will need investigation.<\/strong><\/p>\n\n\n\n<h4 class=\"wp-block-heading\">Primary Care Investigations:<\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>FBC, Blood film<\/li>\n\n\n\n<li>Haemoglobinopathy screen (standard FBC 2.6ml EDTA tube)<\/li>\n\n\n\n<li>Ferritin<\/li>\n\n\n\n<li>Reticulocyte count<\/li>\n\n\n\n<li>Bilirubin, LDH<\/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>For haemoglobinopathy carrier information leaflets please see<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.nhs.uk\/conditions\/thalassaemia\/carriers\/\">https:\/\/www.nhs.uk\/conditions\/thalassaemia\/carriers\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.nhs.uk\/conditions\/sickle-cell-disease\/carriers\/\">https:\/\/www.nhs.uk\/conditions\/sickle-cell-disease\/carriers\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.gov.uk\/government\/collections\/screening-in-pregnancy-information-leaflets#sickle-cell-and-thalassaemia\/\">https:\/\/www.gov.uk\/government\/collections\/screening-in-pregnancy-information-leaflets#sickle-cell-and-thalassaemia\/<\/a><\/li>\n<\/ul>\n\n\n<\/div><\/div>\n<\/div>\n","protected":false},"excerpt":{"rendered":"<p>Inherited Red Cell Disorders (Adult &amp; Paediatric) These include: Please note that newborn screening does not detect alpha or beta thalassaemia trait. Routine testing in childhood is not indicated. Consider testing pre-conceptually. The following will need investigation: C.M &amp; L.W 01-02-24<\/p>\n","protected":false},"author":2,"featured_media":0,"parent":3981,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"categories":[260],"class_list":["post-4048","page","type-page","status-publish","hentry","category-inheritedredcelldisorders"],"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\/haematology\/inheritedredcelldisorders\/\" rel=\"tag\">Inherited Red Cell Disorders<\/a>","rttpg_excerpt":"Inherited Red Cell Disorders (Adult &amp; Paediatric) These include: Please note that newborn screening does not detect alpha or beta thalassaemia trait. Routine testing in childhood is not indicated. Consider testing pre-conceptually. The following will need investigation: C.M &amp; L.W 01-02-24","_links":{"self":[{"href":"https:\/\/apps.nhslothian.scot\/refhelp\/wp-json\/wp\/v2\/pages\/4048","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=4048"}],"version-history":[{"count":10,"href":"https:\/\/apps.nhslothian.scot\/refhelp\/wp-json\/wp\/v2\/pages\/4048\/revisions"}],"predecessor-version":[{"id":18227,"href":"https:\/\/apps.nhslothian.scot\/refhelp\/wp-json\/wp\/v2\/pages\/4048\/revisions\/18227"}],"up":[{"embeddable":true,"href":"https:\/\/apps.nhslothian.scot\/refhelp\/wp-json\/wp\/v2\/pages\/3981"}],"wp:attachment":[{"href":"https:\/\/apps.nhslothian.scot\/refhelp\/wp-json\/wp\/v2\/media?parent=4048"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/apps.nhslothian.scot\/refhelp\/wp-json\/wp\/v2\/categories?post=4048"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}