{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,13]],"date-time":"2025-12-13T06:59:35Z","timestamp":1765609175369,"version":"3.41.2"},"reference-count":11,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,6,17]],"date-time":"2025-06-17T00:00:00Z","timestamp":1750118400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Cardiovasc. Med."],"abstract":"<jats:p>Hemoglobin Titusville is a rare low-oxygen-affinity hemoglobinopathy characterized by normal arterial partial pressure of oxygen but low oxygen saturation. In this study, we describe a case of hemoglobinopathy presenting as cyanosis. A 12-year-old female patient was admitted to the hospital with cyanosis and 87% blood oxygen saturation. Overall, the patient was healthy and preserved exercise tolerance. Upon admission, her arterial partial pressure of oxygen was 121\u2005mmHg, and her blood oxygen saturation was 89.7%. First, the common causes were excluded, after which cardiovascular catheterization was performed. This detected no shunt between the systemic and pulmonary circulation. Finally, whole-exon sequencing confirmed a heterozygous mutation of the <jats:italic>HBA1<\/jats:italic> gene (g.227115G&amp;gt;A). In this study, we review the entire course of this case, providing scientific insight into this disease and a differential diagnosis of cyanosis.<\/jats:p>","DOI":"10.3389\/fcvm.2025.1537704","type":"journal-article","created":{"date-parts":[[2025,6,17]],"date-time":"2025-06-17T05:29:13Z","timestamp":1750138153000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["Case Report: Hemoglobin titusville: a specific case of cyanosis"],"prefix":"10.3389","volume":"12","author":[{"given":"Meng","family":"Zhang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kai","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xinyi","family":"Xu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Ji","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ying","family":"Guo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Gao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tingliang","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2025,6,17]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"1011","DOI":"10.1002\/ccr3.941","article-title":"Haemoglobin titusville: a rare low oxygen affinity haemoglobinopathy","volume":"5","author":"Yasar","year":"2017","journal-title":"Clin Case Rep"},{"key":"B2","doi-asserted-by":"publisher","first-page":"629","DOI":"10.1182\/blood.V48.5.629.629","article-title":"Abnormal haemoglobins in a quarter million people","volume":"48","author":"Schneider","year":"1976","journal-title":"Blood"},{"key":"B3","doi-asserted-by":"publisher","first-page":"810","DOI":"10.1152\/japplphysiol.00860.2018","article-title":"Oxygenation during general anesthesia and thoracic surgery in a patient with titusville low-oxygen affinity hemoglobin","volume":"126","author":"Scaravilli","year":"2019","journal-title":"J Appl Physiol (1985)"},{"key":"B4","doi-asserted-by":"publisher","first-page":"242","DOI":"10.1111\/j.1752-699X.2008.00072.x","article-title":"Decreased oxygen saturation as a result of haemoglobin titusville","volume":"2","author":"Avellan-Hietanen","year":"2008","journal-title":"Clin Respir J"},{"key":"B5","doi-asserted-by":"publisher","first-page":"365","DOI":"10.1016\/0005-2795(75)90192-0","article-title":"Haemoglobin titusville: alpha94 asp replaced by asn. 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