{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,14]],"date-time":"2026-07-14T06:06:24Z","timestamp":1784009184499,"version":"3.55.0"},"reference-count":9,"publisher":"Walter de Gruyter GmbH","issue":"2","license":[{"start":{"date-parts":[[2025,1,23]],"date-time":"2025-01-23T00:00:00Z","timestamp":1737590400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,5,20]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_almed-2024-0175_abs_001\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>Hemoglobinopathies are disorders affecting the structure, function and\/or production of hemoglobin. These conditions are caused by mutations in the genes encoding globin synthesis. The highly variable clinical manifestations of hemoglobin disorders range from asymptomatic forms to severe anemia. Laboratory tests are crucial for diagnosis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_almed-2024-0175_abs_002\">\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      We report the case of a patient who presented with asthenia. Since the patient had a family history of hemoglobonipathies, screening for erythropathies was performed. High-resolution liquid chromatography (HPLC) showed a normal distribution of hemoglobin levels. In contrast, capillary zone electrophoresis at alkaline pH demonstrated an unidentified rapid migration peak. Genetic testing revealed a mutation in the\n                      <jats:italic>HBB<\/jats:italic>\n                      gene causing Hofu hemoglobin disease.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_almed-2024-0175_abs_003\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>The hemoglobin variant Hofu is slightly unstable. While heterozygous carriers most frequently remain asymptomatic, they may develop anemia in the presence of other concomitant disorders. Distinctively, the retention time of Hb Hofu on HPLC is very close to that of HbA (0) and they often elute together. Therefore, Hb Hofu may remain masked, thereby leading to the misinterpretation of test results.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/almed-2024-0175","type":"journal-article","created":{"date-parts":[[2025,1,21]],"date-time":"2025-01-21T21:50:28Z","timestamp":1737496228000},"page":"213-216","source":"Crossref","is-referenced-by-count":1,"title":["Diagnosis of hemogobinopathies in the clinical laboratory: an occult Hofu hemoglobin on HPLC"],"prefix":"10.1515","volume":"6","author":[{"given":"Maitane Echeverr\u00eda","family":"Urroz","sequence":"first","affiliation":[{"name":"Laboratory of Biochemistry, Donostia University Hospital, Hernani (Gipuzkoa) , Donostia , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Isabel L\u00f3pez","family":"Delgado","sequence":"additional","affiliation":[{"name":"Laboratory of Biochemistry, Donostia University Hospital, Hernani (Gipuzkoa) , Donostia , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raquel Oliveros","family":"Conejero","sequence":"additional","affiliation":[{"name":"Laboratory of Biochemistry, Donostia University Hospital, Hernani (Gipuzkoa) , Donostia , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David \u00c1lvarez","family":"Nistal","sequence":"additional","affiliation":[{"name":"Laboratory of Biochemistry, Donostia University Hospital, Hernani (Gipuzkoa) , Donostia , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2025,1,23]]},"reference":[{"key":"2026071405573473766_j_almed-2024-0175_ref_001","doi-asserted-by":"crossref","unstructured":"Miyaji, T, Ohba, Y, Yamamoto, K, Shibata, S, Iuchi, I, Takenaka, M. Japanese haemoglobin variant. Nature 1968;217:89\u201390. https:\/\/doi.org\/10.1038\/217089a0.","DOI":"10.1038\/217089a0"},{"key":"2026071405573473766_j_almed-2024-0175_ref_002","unstructured":"McGann, PT, Quinn, CT. Methods for hemoglobin analysis and hemoglobinopathy testing. UpToDate Vinchinsky, EP, Tirnauer, JS, UpToDate, Waltham, MA."},{"key":"2026071405573473766_j_almed-2024-0175_ref_003","doi-asserted-by":"crossref","unstructured":"Modell, B, Darlison, M. Public health reviews Global epidemiology of haemoglobin disorders. Bull World Health Organ 2008;86:480\u20137. https:\/\/doi.org\/10.2471\/blt.06.036673.","DOI":"10.2471\/BLT.06.036673"},{"key":"2026071405573473766_j_almed-2024-0175_ref_004","unstructured":"Morales-Indiano, C. Diagn\u00f3stico diferencial de las hemoglobinopat\u00edas. Cont Lab Cl\u00edn 2017;28:53\u201371."},{"key":"2026071405573473766_j_almed-2024-0175_ref_005","doi-asserted-by":"crossref","unstructured":"Bain, BJ, Daniel, Y, Henthorn, J, de la Salle, B, Hogan, A, Roy, NBA, et al.. Significant haemoglobinopathies: a guideline for screening and diagnosis: a British society for haematology guideline. Br J Haematol 2023;201:1047\u201365. https:\/\/doi.org\/10.1111\/bjh.18794.","DOI":"10.1111\/bjh.18794"},{"key":"2026071405573473766_j_almed-2024-0175_ref_006","doi-asserted-by":"crossref","unstructured":"Cela, E, Bel\u00e9ndez, C, Galar\u00f3n, P. Interpretaci\u00f3n de la electroforesis de hemoglobina. Anales de Pediatr\u00eda Continuada 2009;7:152\u20135. https:\/\/doi.org\/10.1016\/s1696-2818(09)71119-9.","DOI":"10.1016\/S1696-2818(09)71119-9"},{"key":"2026071405573473766_j_almed-2024-0175_ref_007","doi-asserted-by":"crossref","unstructured":"Hazan, E, Navarro, J, M\u00e1rquez, M, del, C, Castillo, J. Hemoglobina O arabia y hemoblobina Hofu: Reporte de tres familias en el Per\u00fa. Revista M\u00e9dica Herediana 2013;6. https:\/\/doi.org\/10.20453\/rmh.v6i1.473.","DOI":"10.20453\/rmh.v6i1.473"},{"key":"2026071405573473766_j_almed-2024-0175_ref_008","doi-asserted-by":"crossref","unstructured":"Giardine, B, Borg, J, Viennas, E, Pavlidis, C, Moradkhani, K, Joly, P, et al.. Updates of the HbVar database of human hemoglobin variants and thalassemia mutations. Nucleic Acids Res 2014;42. https:\/\/doi.org\/10.1093\/nar\/gkt911.","DOI":"10.1093\/nar\/gkt911"},{"key":"2026071405573473766_j_almed-2024-0175_ref_009","doi-asserted-by":"crossref","unstructured":"Purohit, P, Mashon, RS, Patel, S, Dehury, S, Pattanayak, C, Das, K, et al.. Clinical and molecular characterization of Hb Hofu in eastern India. Int J Lab Hematol 2014;36:71\u20136. https:\/\/doi.org\/10.1111\/ijlh.12128.","DOI":"10.1111\/ijlh.12128"}],"container-title":["Advances in Laboratory Medicine \/ Avances en Medicina de Laboratorio"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyterbrill.com\/document\/doi\/10.1515\/almed-2024-0175\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyterbrill.com\/document\/doi\/10.1515\/almed-2024-0175\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,14]],"date-time":"2026-07-14T05:58:00Z","timestamp":1784008680000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyterbrill.com\/document\/doi\/10.1515\/almed-2024-0175\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1,23]]},"references-count":9,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2025,2,28]]},"published-print":{"date-parts":[[2025,5,20]]}},"alternative-id":["10.1515\/almed-2024-0175"],"URL":"https:\/\/doi.org\/10.1515\/almed-2024-0175","relation":{},"ISSN":["2628-491X"],"issn-type":[{"value":"2628-491X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1,23]]}}}