{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T17:00:14Z","timestamp":1791910814496,"version":"4.3.4"},"reference-count":40,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2021,7,5]],"date-time":"2021-07-05T00:00:00Z","timestamp":1625443200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100010731","name":"Faculty of Medicine, Chiang Mai University","doi-asserted-by":"publisher","award":["103\/2563"],"award-info":[{"award-number":["103\/2563"]}],"id":[{"id":"10.13039\/501100010731","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":[[2021,8]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Mutations in the <jats:italic>KLF1<\/jats:italic> gene, which encodes a transcription factor playing a role in erythropoiesis, have recently been demonstrated to be a rare cause of hereditary haemolytic anaemia. We described the genotypic and phenotypic spectra of four unrelated families with compound heterozygous class 2\/class 3 <jats:italic>KLF1<\/jats:italic> mutations. All patients had p.G176RfsX179 on one allele and either p.A298P, p.R301H or p.G335R on the other allele. All presented on the first day of life with severe haemolytic anaemia with abnormal red blood cell morphology, markedly increased nucleated red blood cells and hyperbilirubinaemia. Three patients later became transfusion\u2010dependent. All parents with heterozygous <jats:italic>KLF1<\/jats:italic> mutation without co\u2010inherited thalassaemia had normal to borderline mean corpuscular volume (MCV) and normal to slightly elevated Hb F. Fifteen previously reported cases of biallelic <jats:italic>KLF1<\/jats:italic> mutations were identified from a literature review. All except one presented with severe haemolytic anaemia in the neonatal period. Our finding substantiates that compound heterozygous <jats:italic>KLF1<\/jats:italic> mutations are associated with severe neonatal haemolytic anaemia and expands the haematologic phenotypic spectrum. In carriers, the previously suggested findings of low MCV, high Hb A<jats:sub>2<\/jats:sub> and high Hb F are inconsistent; thus this necessitates molecular studies for the identification of carriers.<\/jats:p>","DOI":"10.1111\/bjh.17616","type":"journal-article","created":{"date-parts":[[2021,7,6]],"date-time":"2021-07-06T06:00:10Z","timestamp":1625551210000},"page":"626-634","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Severe neonatal haemolytic anaemia caused by compound heterozygous <i>KLF1<\/i> mutations: report of four families and literature review"],"prefix":"10.1111","volume":"194","author":[{"given":"Tanu","family":"Tangsricharoen","sequence":"first","affiliation":[{"name":"Department of Pediatrics Division of Hematology and Oncology Faculty of Medicine Chiang Mai University Chiang Mai 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