{"id":719,"date":"2024-02-13T01:00:00","date_gmt":"2024-02-13T01:00:00","guid":{"rendered":"http:\/\/sebgc.es\/blog\/?guid=5d1b7696f9e32a6e5239fdfe46d0a334"},"modified":"2024-02-14T01:47:07","modified_gmt":"2024-02-14T01:47:07","slug":"comprehensive-genomic-analysis-identifies-a-diverse-landscape-of-sideroblastic-and-non-sideroblastic-iron-related-anemias-with-novel-and-pathogenic-variants-in-an-iron-deficient-endemic-setting","status":"publish","type":"post","link":"https:\/\/sebigec.es\/blog\/index.php\/2024\/02\/13\/comprehensive-genomic-analysis-identifies-a-diverse-landscape-of-sideroblastic-and-non-sideroblastic-iron-related-anemias-with-novel-and-pathogenic-variants-in-an-iron-deficient-endemic-setting\/","title":{"rendered":"Comprehensive genomic analysis identifies a diverse landscape of sideroblastic and non-sideroblastic iron related anemias with novel and pathogenic variants in an iron deficient endemic setting"},"content":{"rendered":"Inherited iron metabolism defects are possibly missed or underdiagnosed in iron-deficient endemic settings due to a lack of awareness or a methodical screening approach. Hence, we planned a systematic evaluation of anemia cases (2019-2021) based on clinical phenotype, normal screening tests (HPLC, alpha gene sequencing, ESR, CRP, tTG), and abnormal iron profile by targeted NGS (26 gene-panel) supplemented with whole exome, MLPA\/mtDNA sequencing and CMA. Novel variants in ALAS2, STEAP3, and HSPA9 genes were functionally validated.","protected":false},"excerpt":{"rendered":"<p>Inherited iron metabolism defects are possibly missed or underdiagnosed in iron-deficient endemic settings due to a lack of awareness or a methodical screening approach. Hence, we planned a systematic evaluation of anemia cases (2019-2021) based on cli&#8230;<\/p>\n","protected":false},"author":1,"featured_media":775,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[6,54],"tags":[59,55],"class_list":["post-719","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-articulos","category-the-journal-of-molecular-diagnostics","tag-anemia","tag-jmoldiagn"],"_links":{"self":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/719","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/comments?post=719"}],"version-history":[{"count":2,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/719\/revisions"}],"predecessor-version":[{"id":820,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/719\/revisions\/820"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media\/775"}],"wp:attachment":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media?parent=719"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/categories?post=719"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/tags?post=719"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}