{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T12:33:34Z","timestamp":1789475614152,"version":"build-2803163510"},"reference-count":71,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2026,4,24]],"date-time":"2026-04-24T00:00:00Z","timestamp":1776988800000},"content-version":"vor","delay-in-days":23,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T00:00:00Z","timestamp":1775001600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["eJHaem"],"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      GATA1 and GATA2 are zinc\u2010finger transcription factors essential for normal hematopoiesis. As genetic testing becomes more widely integrated into clinical practice,\n                      <jats:italic>GATA1\/2<\/jats:italic>\n                      \u2010related disorders are increasingly recognized, making it important for clinicians to understand their diagnosis and management.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Aims<\/jats:title>\n                    <jats:p>\n                      This review summarizes the clinical features, disease mechanisms, and management considerations for\n                      <jats:italic>GATA1<\/jats:italic>\n                      \u2010 and\n                      <jats:italic>GATA2<\/jats:italic>\n                      \u2010related hematological disorders.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Content<\/jats:title>\n                    <jats:p>\n                      We discuss germline\n                      <jats:italic>GATA1<\/jats:italic>\n                      mutations causing rare X\u2010linked erythroid and megakaryocytic cytopenias, somatic\n                      <jats:italic>GATA1<\/jats:italic>\n                      mutations driving myeloid leukemia of Down syndrome, and germline\n                      <jats:italic>GATA2<\/jats:italic>\n                      mutations causing\n                      <jats:italic>GATA2<\/jats:italic>\n                      deficiency syndrome\u2014a predisposition to immunodeficiency and myeloid malignancies affecting up to 75%\u201380% of carriers. Evolving genotype\u2013phenotype patterns, the somatic mutational landscape, and current therapeutic strategies, including allogeneic hematopoietic stem cell transplantation (HSCT), are reviewed.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Summary<\/jats:title>\n                    <jats:p>\n                      Despite growing recognition of\n                      <jats:italic>GATA1\/2<\/jats:italic>\n                      \u2010related disorders, many aspects of disease biology and clinical variability remain incompletely understood. Earlier identification and risk stratification of affected patients, along with advances in transplant approaches and novel therapeutics, will be essential for improving outcomes.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Trial Registration<\/jats:title>\n                    <jats:p>The authors have confirmed clinical trial registration is not needed for this submission<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/jha2.70258","type":"journal-article","created":{"date-parts":[[2026,4,24]],"date-time":"2026-04-24T17:48:25Z","timestamp":1777052905000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Transcription Factors GATA1\/2 in Hematological Disorders"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6436-5717","authenticated-orcid":false,"given":"Matthew","family":"Karr","sequence":"first","affiliation":[{"name":"Department of Hematology and Oncology Robert Wood Johnson Medical School Rutgers University  New Brunswick New Jersey USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neil","family":"Palmisiano","sequence":"additional","affiliation":[{"name":"Department of Hematology and Oncology Robert Wood Johnson Medical School Rutgers University  New Brunswick New Jersey USA"},{"name":"Division of Blood Disorders Rutgers Cancer Institute of New Jersey  New Brunswick New Jersey USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoyi","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Hematology and Oncology Robert Wood Johnson Medical School Rutgers University  New Brunswick New Jersey USA"},{"name":"Division of Blood Disorders Rutgers Cancer Institute of New Jersey  New Brunswick New Jersey USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,4,24]]},"reference":[{"key":"e_1_2_15_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0995\u20109"},{"key":"e_1_2_15_3_1","doi-asserted-by":"publisher","DOI":"10.1017\/erm.2016.2"},{"key":"e_1_2_15_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/349257a0"},{"key":"e_1_2_15_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/16.13.3965"},{"key":"e_1_2_15_6_1","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20020170"},{"key":"e_1_2_15_7_1","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20021149"},{"key":"e_1_2_15_8_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.93.22.12355"},{"key":"e_1_2_15_9_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1432147100"},{"key":"e_1_2_15_10_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V93.9.2867.409k24_2867_2875"},{"key":"e_1_2_15_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.semcdb.2004.11.002"},{"key":"e_1_2_15_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng955"},{"key":"e_1_2_15_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140\u20106736(03)13266\u20107"},{"key":"e_1_2_15_14_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood\u20102003\u201001\u20100013"},{"key":"e_1_2_15_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/371221a0"},{"key":"e_1_2_15_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24271"},{"key":"e_1_2_15_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaip.2017.02.010"},{"key":"e_1_2_15_18_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood\u20102015\u201009\u2010669937"},{"key":"e_1_2_15_19_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2022.282250"},{"key":"e_1_2_15_20_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.92.21.9623"},{"key":"e_1_2_15_21_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V82.4.1071.1071"},{"key":"e_1_2_15_22_1","doi-asserted-by":"publisher","DOI":"10.1093\/jb\/mvm122"},{"key":"e_1_2_15_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/339446a0"},{"key":"e_1_2_15_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/S2352\u20103026(24)00063\u20102"},{"key":"e_1_2_15_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.24952"},{"key":"e_1_2_15_26_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.142302099"},{"key":"e_1_2_15_27_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M112.370437"},{"key":"e_1_2_15_28_1","volume-title":"GeneReviews\u00ae","author":"Takasaki K.","year":"2023"},{"key":"e_1_2_15_29_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes13030447"},{"key":"e_1_2_15_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2008.09.018"},{"key":"e_1_2_15_31_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V98.1.85"},{"key":"e_1_2_15_32_1","doi-asserted-by":"publisher","DOI":"10.1038\/73480"},{"key":"e_1_2_15_33_1","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1160\/TH03-05-0290","article-title":"Effects of the R216Q Mutation of GATA1 on Erythropoiesis and Megakaryocytopoiesis","volume":"91","author":"Balduini C. 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