{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,20]],"date-time":"2025-08-20T12:49:31Z","timestamp":1755694171548,"version":"3.40.5"},"reference-count":16,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2024,2,12]],"date-time":"2024-02-12T00:00:00Z","timestamp":1707696000000},"content-version":"vor","delay-in-days":11,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["eJHaem"],"published-print":{"date-parts":[[2024,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A girl with a sickle cell trait had severe VOCs (vaso\u2010occlusive crises), her father also had a sickle cell trait but mild VOCs, and her mother had no symptoms. Electrophoresis on agarose gel under alkaline conditions showed haemoglobin AS (HbAS) in the girl and in her father, with an S band increased more than expected (46.2% and 41.2% respectively), and a band migrating at C (16.8% and 8.9% respectively) in both. There was a band at S (19.6 %) in her mother. The C band was attributed to a hybrid tetramer with haemoglobin S (HbS) and a Hb variant. A homozygous c.46G&gt;C mutation (Hb Ottawa, the Hb variant) was detected by Sanger sequencing in the girl. Heterozygosity for Hb Ottawa by Sanger sequencing was shown in both the father and the mother. The father, with HbAS and heterozygous for Hb Ottawa, had mild VOCs. Heterozygosity only for Hb Ottawa did not produce any abnormality in the mother. A sister and two brothers of the index patient presented a Hb variant, probably Hb Ottawa, migrating to the S zone (all 20%) at electrophoresis, without HbS. These last three were asymptomatic. We conclude that Hb Ottawa, an \u03b1\u2010globin variant, contributes along with haemoglobin S (HbS) to VOC symptoms.<\/jats:p>","DOI":"10.1002\/jha2.857","type":"journal-article","created":{"date-parts":[[2024,2,12]],"date-time":"2024-02-12T09:50:21Z","timestamp":1707731421000},"page":"33-38","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Haemoglobin Ottawa, sickle cell trait and vaso\u2010occlusive crises"],"prefix":"10.1002","volume":"5","author":[{"given":"C\u00e9cile","family":"Bobillier","sequence":"first","affiliation":[{"name":"Medical Laboratory Centre m\u00e9dical du Puits de Jacob  Sokode Togo"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabelle","family":"Derclaye","sequence":"additional","affiliation":[{"name":"Molecular biology\/haemoglobin Laboratory Cliniques universitaires Saint\u2010Luc, Universit\u00e9 catholique de Louvain  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1627-3041","authenticated-orcid":false,"given":"Augustin","family":"Ferrant","sequence":"additional","affiliation":[{"name":"Clinical medicine Centre m\u00e9dical du Puits de Jacob  Sokode Togo"},{"name":"Universit\u00e9 catholique de Louvain  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diane","family":"Maisin","sequence":"additional","affiliation":[{"name":"Molecular biology\/haemoglobin Laboratory Cliniques universitaires Saint\u2010Luc, Universit\u00e9 catholique de Louvain  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,2,12]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0005-2795(74)90379-1"},{"key":"e_1_2_13_3_1","first-page":"199","article-title":"Hemoglobin Siam (alpha215 Argbeta2): a new alpha chain variant","volume":"23","author":"Pootrakul S","year":"1974","journal-title":"Humangenetik"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.3109\/03630260009002277"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1081\/HEM-120002944"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinbiochem.2006.08.008"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.3892\/mmr.2011.467"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.5581\/1516\u20108484.20130031"},{"key":"e_1_2_13_9_1","doi-asserted-by":"publisher","DOI":"10.4081\/thal.2020.8733"},{"key":"e_1_2_13_10_1","doi-asserted-by":"publisher","DOI":"10.5001\/omj.2021.102"},{"key":"e_1_2_13_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkaa959"},{"key":"e_1_2_13_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.15235"},{"key":"e_1_2_13_13_1","first-page":"294","article-title":"Les h\u00e9moglobines rares au Togo: \u00e0 propos d'une \u00e9tude r\u00e9alis\u00e9e sur quinze ans au CHU Campus de Lom\u00e9 (Togo)","volume":"23","author":"Kueviakoe MDI","year":"2013","journal-title":"Med Sante Trop"},{"key":"e_1_2_13_14_1","doi-asserted-by":"publisher","DOI":"10.1182\/bloodadvances.201600950"},{"key":"e_1_2_13_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12308-022-00514-7"},{"key":"e_1_2_13_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-7020-6696-2.00014-X"},{"key":"e_1_2_13_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.18794"}],"container-title":["eJHaem"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jha2.857","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,23]],"date-time":"2024-02-23T16:49:06Z","timestamp":1708706946000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jha2.857"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,2]]},"references-count":16,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2024,2]]}},"alternative-id":["10.1002\/jha2.857"],"URL":"https:\/\/doi.org\/10.1002\/jha2.857","archive":["Portico"],"relation":{},"ISSN":["2688-6146","2688-6146"],"issn-type":[{"type":"print","value":"2688-6146"},{"type":"electronic","value":"2688-6146"}],"subject":[],"published":{"date-parts":[[2024,2]]},"assertion":[{"value":"2024-01-06","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-01-08","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-02-12","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}