{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,6]],"date-time":"2026-07-06T16:20:11Z","timestamp":1783354811124,"version":"3.54.6"},"reference-count":36,"publisher":"BMJ","issue":"11","funder":[{"DOI":"10.13039\/501100004396","name":"Thailand Research Fund","doi-asserted-by":"crossref","award":["RTA6280005"],"award-info":[{"award-number":["RTA6280005"]}],"id":[{"id":"10.13039\/501100004396","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100017170","name":"Thailand Science Research and Innovation","doi-asserted-by":"crossref","award":["FF-660622\/2566"],"award-info":[{"award-number":["FF-660622\/2566"]}],"id":[{"id":"10.13039\/501100017170","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Clin Pathol"],"accepted":{"date-parts":[[2023,7,20]]},"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:sec>\n                  <jats:title>Aims<\/jats:title>\n                  <jats:p>Kr\u00fcppel-like factor 1 (KLF1) is an erythroid-specific transcription factor playing an important role in erythropoiesis and haemoglobin (Hb) switching. Biallelic KLF1 mutations can cause haemolytic anaemia with thalassaemia-like syndromes but are rarely reported. We explore the KLF1 mutations in Thai subjects with unexplainable haemolytic anaemia.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>The study was done on 57 subjects presented with haemolytic anaemia and elevated Hb F without \u03b2-thalassaemia diseases. Hb analysis was performed using capillary electrophoresis. Analyses of \u03b1-thalassaemia, \u03b2-thalassaemia and KLF1 genes were performed using PCR-based methods and DNA sequencing.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Thirteen subjects with compound heterozygous for a known and five new genetic KLF1 interactions were identified, including KLF1:c.519_525dupCGGCGCC\/c.892G&gt;C with class 3\/2 (n=8), and each subject with new genetic interaction, including KLF1:c.-154C&gt;T;643C&gt;T\/c.983G&gt;A with class 3\/2, KLF1:c.-154C&gt;T;643C&gt;T\/c.809C&gt;G with class 3\/2, KLF1:c892G&gt;C\/c.983G&gt;A with class 2\/2, KLF1:c.892G&gt;C\/c.1001C&gt;G with class 2\/2 and KLF1:c.1001C&gt;G\/c.1003G&gt;A with class 2\/2. Most of them had anaemia with Hb levels ranging from 45 to 110 g\/L, hypochromic microcytosis, aniso-poikilocytosis, increased Hb F levels (17.9%\u201347.4%), small amounts of Hb Bart\u2019s, regular blood transfusion, hyperbilirubinaemia, increased serum ferritin and nucleated red blood cell.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Biallelic KLF1 mutations associated with anaemia may not be uncommon in Thailand. Characteristics of haemolytic anaemia, abnormal red cell morphology with nucleated red blood cells and elevated Hb F, and presenting small amounts of Hb Bart\u2019s without thalassaemia diseases are useful markers to further investigation of the KLF1 gene.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jcp-2023-208945","type":"journal-article","created":{"date-parts":[[2023,7,28]],"date-time":"2023-07-28T13:24:57Z","timestamp":1690550697000},"page":"783-789","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":4,"title":["Molecular and haematological characterisation of haemolytic anaemia associated with biallelic KLF1 mutations: a case series"],"prefix":"10.1136","volume":"77","author":[{"given":"Kritsada","family":"Singha","sequence":"first","affiliation":[{"name":"Faculty of Medicine, Mahasarakham University, Mahasarakham, Thailand"},{"name":"Centre for Research & Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nattiya","family":"Teawtrakul","sequence":"additional","affiliation":[{"name":"Division of Hematology, Department of Internal Medicine, Khon Kaen University, Khon Kaen, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Goonnapa","family":"Fucharoen","sequence":"additional","affiliation":[{"name":"Centre for Research & Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9142-5079","authenticated-orcid":false,"given":"Supan","family":"Fucharoen","sequence":"additional","affiliation":[{"name":"Centre for Research & Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2023,7,28]]},"reference":[{"key":"2025092504195633000_77.11.783.1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2011-03-331371"},{"key":"2025092504195633000_77.11.783.2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2016-01-694331"},{"key":"2025092504195633000_77.11.783.3","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2013-09-526087"},{"key":"2025092504195633000_77.11.783.4","first-page":"112","article-title":"Thalassemia and erythroid transcription factor KLF1 mutations associated with borderline hemoglobin A2 in the Thai population","volume":"18","author":"Srivorakun","year":"2022","journal-title":"Arch Med Sci"},{"key":"2025092504195633000_77.11.783.5","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2021.691461"},{"key":"2025092504195633000_77.11.783.6","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2014-03-561779"},{"key":"2025092504195633000_77.11.783.7","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2010.037333"},{"key":"2025092504195633000_77.11.783.8","doi-asserted-by":"publisher","DOI":"10.1007\/s00277-012-1625-9"},{"key":"2025092504195633000_77.11.783.9","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.291"},{"key":"2025092504195633000_77.11.783.10","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2014-08-590968"},{"key":"2025092504195633000_77.11.783.11","doi-asserted-by":"publisher","DOI":"10.3109\/03630269.2014.991023"},{"key":"2025092504195633000_77.11.783.12","doi-asserted-by":"publisher","DOI":"10.1080\/03630269.2016.1267017"},{"key":"2025092504195633000_77.11.783.13","doi-asserted-by":"publisher","DOI":"10.1097\/MPH.0000000000001093"},{"key":"2025092504195633000_77.11.783.14","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2018.06.003"},{"key":"2025092504195633000_77.11.783.15","doi-asserted-by":"publisher","DOI":"10.1080\/03630269.2019.1680384"},{"key":"2025092504195633000_77.11.783.16","doi-asserted-by":"publisher","DOI":"10.1097\/MPH.0000000000001727"},{"key":"2025092504195633000_77.11.783.17","doi-asserted-by":"crossref","DOI":"10.1182\/blood.2021011704","article-title":"Two brothers with a novel KLF1 Mutation","volume":"138","author":"Ireland","year":"2021","journal-title":"Blood"},{"key":"2025092504195633000_77.11.783.18","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.17616"},{"key":"2025092504195633000_77.11.783.19","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.18356"},{"key":"2025092504195633000_77.11.783.20","doi-asserted-by":"publisher","DOI":"10.1007\/s00277-023-05175-9"},{"key":"2025092504195633000_77.11.783.21","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2013.04.003"},{"key":"2025092504195633000_77.11.783.22","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinbiochem.2019.06.005"},{"key":"2025092504195633000_77.11.783.23","doi-asserted-by":"publisher","DOI":"10.1002\/pd.2514"},{"key":"2025092504195633000_77.11.783.24","doi-asserted-by":"publisher","DOI":"10.1007\/s00277-015-2335-x"},{"key":"2025092504195633000_77.11.783.25","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2016.04.010"},{"key":"2025092504195633000_77.11.783.26","doi-asserted-by":"publisher","DOI":"10.1159\/000435802"},{"key":"2025092504195633000_77.11.783.27","doi-asserted-by":"crossref","DOI":"10.4084\/mjhid.2019.038","article-title":"Molecular analysis of non-transfusion dependent thalassemia associated with hemoglobin E-\u0392-Thalassemia disease without \u0391-thalassemia","volume":"11","author":"Phanrahan","year":"2019","journal-title":"Mediterr J Hematol Infect Dis"},{"key":"2025092504195633000_77.11.783.28","doi-asserted-by":"publisher","DOI":"10.1111\/ejh.12201"},{"key":"2025092504195633000_77.11.783.29","doi-asserted-by":"publisher","DOI":"10.1038\/ng.637"},{"key":"2025092504195633000_77.11.783.30","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1111\/ijlh.12356","article-title":"Kr\u00fcppel-like factor 1: hematologic phenotypes associated with KLF1 gene mutations","volume":"37 Suppl 1","author":"Waye","year":"2015","journal-title":"Int J Lab Hematol"},{"key":"2025092504195633000_77.11.783.31","doi-asserted-by":"publisher","DOI":"10.3109\/03630269.2014.974608"},{"key":"2025092504195633000_77.11.783.32","doi-asserted-by":"publisher","DOI":"10.1159\/000353119"},{"key":"2025092504195633000_77.11.783.33","doi-asserted-by":"publisher","DOI":"10.1080\/03630269.2020.1768109"},{"key":"2025092504195633000_77.11.783.34","doi-asserted-by":"crossref","first-page":"1072","DOI":"10.1111\/trf.13990","article-title":"Mutations of the KLF1 gene detected in Japanese with the In(Lu) phenotype","volume":"57","author":"Kawai","year":"2017","journal-title":"Transfusion"},{"key":"2025092504195633000_77.11.783.35","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0609.2009.01245.x"},{"key":"2025092504195633000_77.11.783.36","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-022-02197-w","article-title":"Diagnostic value of fetal hemoglobin BART's for evaluation of fetal \u0391-thalassemia syndromes: application to prenatal characterization of fetal anemia caused by undiagnosed \u0391-hemoglobinopathy","volume":"17","author":"Singha","year":"2022","journal-title":"Orphanet J Rare Dis"}],"container-title":["Journal of Clinical Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jcp-2023-208945","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T11:20:04Z","timestamp":1758799204000},"score":1,"resource":{"primary":{"URL":"https:\/\/jcp.bmj.com\/lookup\/doi\/10.1136\/jcp-2023-208945"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,7,28]]},"references-count":36,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2024,10,20]]},"published-print":{"date-parts":[[2024,11]]}},"alternative-id":["10.1136\/jcp-2023-208945"],"URL":"https:\/\/doi.org\/10.1136\/jcp-2023-208945","relation":{},"ISSN":["0021-9746","1472-4146"],"issn-type":[{"value":"0021-9746","type":"print"},{"value":"1472-4146","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,7,28]]}}}