{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T13:12:23Z","timestamp":1762866743888,"version":"3.44.0"},"reference-count":10,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"accepted":{"date-parts":[[2015,10,2]]},"abstract":"<jats:p>Early neonatal central cyanosis that is unrelated to cardiopulmonary causes, alerts clinicians to possibility of methaemoglobinaemia. Congenital methaemoglobinaemia due to haemoglobin M is an autosomal dominant disorder characterised by lifelong cyanosis. We report a case presentation and review of diagnostic pitfalls of a newborn who presented with central cyanosis; investigations revealed a low methaemoglobin reductase (2.2\u2005IU\/g Hb), with normal maternal levels (9.1\u2005IU\/g Hb). Therefore, haemoglobinopathy investigations were completed on the mother and her baby, which showed an \u03b1-globin variant in both. The maternal \u03b12 globin gene sequencing showed heterozygosity for haemoglobin M Boston (\u03b158 His\u2192Tyr).<\/jats:p>","DOI":"10.1136\/bcr-2015-212336","type":"journal-article","created":{"date-parts":[[2015,10,23]],"date-time":"2015-10-23T08:17:47Z","timestamp":1445588267000},"page":"bcr2015212336","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":4,"title":["HbM methaemoglobinaemia as a rare case of early neonatal benign cyanosis"],"prefix":"10.1136","volume":"2015","author":[{"given":"Mohamed Sabry","family":"Elboraee","sequence":"first","affiliation":[{"name":"Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2071-388X","authenticated-orcid":false,"given":"Gwen","family":"Clarke","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology, University of Alberta, Edmonton, Alberta, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7795-1862","authenticated-orcid":false,"given":"Mark J","family":"Belletrutti","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Hematology, Oncology and Palliative Care, University of Alberta, Edmonton, Alberta, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7512-8485","authenticated-orcid":false,"given":"Sandra","family":"Escoredo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2015,10,22]]},"reference":[{"key":"2025082700144334000_2015.oct22_1.bcr2015212336.1","doi-asserted-by":"publisher","DOI":"10.1136\/ewjm.175.3.193"},{"key":"2025082700144334000_2015.oct22_1.bcr2015212336.2","doi-asserted-by":"publisher","DOI":"10.1542\/peds.112.2.e158"},{"key":"2025082700144334000_2015.oct22_1.bcr2015212336.3","first-page":"203","article-title":"Methemoglobinemia: a systematic review of the pathophysiology, detection, and treatment","volume":"83","author":"Ashurst","year":"2011","journal-title":"Del Med J"},{"key":"2025082700144334000_2015.oct22_1.bcr2015212336.4","doi-asserted-by":"publisher","DOI":"10.1097\/SMJ.0b013e318232139f"},{"key":"2025082700144334000_2015.oct22_1.bcr2015212336.5","unstructured":"Lukens JN . Methemoglobinemia and other disorders accompanied by cyanosis. In: Lee GR , Foerster J , Lukens JN , et al ., ed. Wintrobe's clinical hematology. 10th edn. Baltimore, MD: Lippincott Williams & Wilkins, 1999: 1046\u201355."},{"key":"2025082700144334000_2015.oct22_1.bcr2015212336.6","doi-asserted-by":"publisher","DOI":"10.1016\/S0196-0644(99)70167-8"},{"key":"2025082700144334000_2015.oct22_1.bcr2015212336.7","doi-asserted-by":"crossref","unstructured":"Bain BJ , Wild BJ , Stephens AD , et al . Variant haemoglobins; a guide to Identification. Oxford: Wiley-Blackwell, 2010.","DOI":"10.1002\/9781444328318"},{"key":"2025082700144334000_2015.oct22_1.bcr2015212336.8","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2013.220467"},{"key":"2025082700144334000_2015.oct22_1.bcr2015212336.9","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.47.11.1758"},{"key":"2025082700144334000_2015.oct22_1.bcr2015212336.10","unstructured":"Nagel RL . Disorders of hemoglobin function and stability. In: Steinberg MH , Forget BG , Higgs DR , et al ., eds. Disorders of hemoglobin: genetics, pathophysiology and clinical management. Cambridge University Press, 2001:1155\u201394."}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2015-212336","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T07:14:56Z","timestamp":1756278896000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2015-212336"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,10,22]]},"references-count":10,"alternative-id":["10.1136\/bcr-2015-212336"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2015-212336","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2015,10,22]]}}}