{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T13:56:07Z","timestamp":1785851767996,"version":"3.56.0"},"reference-count":41,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2016,7,29]],"date-time":"2016-07-29T00:00:00Z","timestamp":1469750400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100002347","name":"Bundesministerium f\u00fcr Bildung und Forschung","doi-asserted-by":"publisher","award":["01GM0848"],"award-info":[{"award-number":["01GM0848"]}],"id":[{"id":"10.13039\/501100002347","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Br J Haematol"],"published-print":{"date-parts":[[2016,11]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Congenital dyserythropoietic anaemia type <jats:styled-content style=\"fixed-case\">II<\/jats:styled-content> (<jats:styled-content style=\"fixed-case\">CDAII<\/jats:styled-content>) is a rare autosomal recessive disease characterized by ineffective erythropoiesis, haemolysis, erythroblast morphological abnormalities, hypoglycosylation of some red blood cell membrane proteins, particularly band 3, and mutations in the <jats:italic><jats:styled-content style=\"fixed-case\">SEC<\/jats:styled-content>23B<\/jats:italic> gene. We report the analysis of 101 patients from 91 families with a median follow\u2010up of 23\u00a0years (range 0\u201365); 68 patients are newly reported. Clinical and haematological parameters were separately analysed in early infancy and thereafter, when feasible. Molecular analysis of the <jats:italic><jats:styled-content style=\"fixed-case\">SEC<\/jats:styled-content>23B<\/jats:italic> gene confirmed the high heterogeneity of the defect, leading to the identification of 54 different mutations, 24 of which are newly described. To evaluate the genotype\u2010phenotype correlation, patients were grouped according to their genotype (two missense mutations vs. one missense\/one drastic mutation) and assigned to two different severity gradings based on laboratory data and on therapeutic needs; by this approach only a weak genotype\u2010phenotype correlation was observed in the analysed groups.<\/jats:p>","DOI":"10.1111\/bjh.14271","type":"journal-article","created":{"date-parts":[[2016,11,16]],"date-time":"2016-11-16T22:14:44Z","timestamp":1479334484000},"page":"696-704","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":27,"title":["Analysis of a cohort of 101 <scp>CDAII<\/scp> patients: description of 24 new molecular variants and genotype\u2010phenotype correlations"],"prefix":"10.1111","volume":"175","author":[{"given":"Paola","family":"Bianchi","sequence":"first","affiliation":[{"name":"Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico UO 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