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The genetics of <jats:styled-content style=\"fixed-case\">TAR<\/jats:styled-content> syndrome has recently been resolved and comprises a microdeletion on Chromosome 1 including the <jats:italic><jats:styled-content style=\"fixed-case\">RBM<\/jats:styled-content>8A<\/jats:italic> gene and a single nucleotide polymorphism (<jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>) either at the 5\u2032 untranslated region (5\u2032<jats:styled-content style=\"fixed-case\">UTR<\/jats:styled-content>) or within the first intron of <jats:italic><jats:styled-content style=\"fixed-case\">RBM<\/jats:styled-content>8A<\/jats:italic>. Although phenotypically readily diagnosed after birth, the genetic determination of particular <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>s in <jats:styled-content style=\"fixed-case\">TAR<\/jats:styled-content> syndrome harbours valuable information to evaluate disease severity and treatment decisions. Here, we present clinical data in a cohort of 38 patients and observed that platelet counts in individuals with 5\u2032<jats:styled-content style=\"fixed-case\">UTR SNP<\/jats:styled-content> are significantly lower compared to patients bearing the <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content> in intron 1. Moreover, elevated haemoglobin values could only be assessed in patients with 5\u2032<jats:styled-content style=\"fixed-case\">UTR SNP<\/jats:styled-content> whereas white blood cell count is unaffected, indicating that frequently observed anaemia in <jats:styled-content style=\"fixed-case\">TAR<\/jats:styled-content> patients could also be <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>\u2010dependent whereas leucocytosis does not correlate with genetic background. However, this report on a large cohort provides an overview of important haematological characteristics in <jats:styled-content style=\"fixed-case\">TAR<\/jats:styled-content> patients, facilitating evaluation of the various traits in this disease and indicating the importance of genetic validation for <jats:styled-content style=\"fixed-case\">TAR<\/jats:styled-content> syndrome.<\/jats:p>","DOI":"10.1111\/bjh.14913","type":"journal-article","created":{"date-parts":[[2017,8,31]],"date-time":"2017-08-31T12:12:39Z","timestamp":1504181559000},"page":"606-617","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["Impact of genetic variants on haematopoiesis in patients with thrombocytopenia absent radii (TAR) syndrome"],"prefix":"10.1111","volume":"179","author":[{"given":"Georgi","family":"Manukjan","sequence":"first","affiliation":[{"name":"Institute of Experimental Biomedicine, Chair I University Hospital W\u00fcrzburg 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