{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T15:58:22Z","timestamp":1781107102665,"version":"3.54.1"},"reference-count":28,"publisher":"National Academy of Sciences","issue":"2","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2012,1,10]]},"abstract":"<jats:p>\n                    Diverse mutations in the genes encoding hemoglobin (Hb) have been characterized in human disease. We describe here a mutation in the mouse\n                    <jats:italic>Hbb-b2<\/jats:italic>\n                    gene, denoted\n                    <jats:italic>Plt12<\/jats:italic>\n                    , that precisely mimics the human hemoglobin Hotel Dieu variant. The mutation results in increased affinity of Hb for oxygen and\n                    <jats:italic>Plt12<\/jats:italic>\n                    mutant mice exhibited reduced partial pressure of O\n                    <jats:sub>2<\/jats:sub>\n                    in the blood, accompanied by erythrocytosis characterized by elevated erythropoietin levels and splenomegaly with excess erythropoiesis. Most homozygous\n                    <jats:italic>\n                      Hbb-b2\n                      <jats:sup>Plt12\/Plt12<\/jats:sup>\n                    <\/jats:italic>\n                    mice succumbed to early lethality associated with emphysema, cardiac abnormalities, and liver degeneration. Survivors displayed a marked thrombocytopenia without significant deficiencies in the numbers of megakaryocytes or megakaryocyte progenitor cells. The lifespan of platelets in the circulation of\n                    <jats:italic>\n                      Hbb-b2\n                      <jats:sup>Plt12\/Plt12<\/jats:sup>\n                    <\/jats:italic>\n                    mice was normal, and splenectomy did not correct the thrombocytopenia, suggesting that increased sequestration was unlikely to be a major contributor. These data, together with the observation that megakaryocytes in\n                    <jats:italic>\n                      Hbb-b2\n                      <jats:sup>Plt12\/Plt12<\/jats:sup>\n                    <\/jats:italic>\n                    mice appeared smaller and deficient in cytoplasm, support a model in which hypoxia causes thrombocytopenia as a consequence of an inability of megakaryocytes, once formed, to properly mature and produce sufficient platelets. The\n                    <jats:italic>Plt12<\/jats:italic>\n                    mouse is a model of high O\n                    <jats:sub>2<\/jats:sub>\n                    -affinity hemoglobinopathy and provides insights into hematopoiesis under conditions of chronic hypoxia.\n                  <\/jats:p>","DOI":"10.1073\/pnas.1119146109","type":"journal-article","created":{"date-parts":[[2011,12,27]],"date-time":"2011-12-27T22:30:36Z","timestamp":1325025036000},"page":"576-581","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":2,"title":["Thrombocytopenia and erythrocytosis in mice with a mutation in the gene encoding the hemoglobin \u03b2 minor chain"],"prefix":"10.1073","volume":"109","author":[{"given":"Maria","family":"Kauppi","sequence":"first","affiliation":[{"name":"Cancer and Haematology and"},{"name":"Department of Medical Biology, University of Melbourne, Parkville, Victoria 3010, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adrienne A.","family":"Hilton","sequence":"additional","affiliation":[{"name":"Cancer and Haematology and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donald","family":"Metcalf","sequence":"additional","affiliation":[{"name":"Cancer and Haematology and"},{"name":"Department of Medical Biology, University of Melbourne, Parkville, Victoria 3010, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashley P.","family":"Ng","sequence":"additional","affiliation":[{"name":"Cancer and Haematology and"},{"name":"Department of Medical Biology, University of Melbourne, Parkville, Victoria 3010, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Craig D.","family":"Hyland","sequence":"additional","affiliation":[{"name":"Cancer and Haematology and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janelle E.","family":"Collinge","sequence":"additional","affiliation":[{"name":"Cancer and Haematology and"},{"name":"Department of Medical Biology, University of Melbourne, Parkville, Victoria 3010, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin T.","family":"Kile","sequence":"additional","affiliation":[{"name":"Cancer and Haematology and"},{"name":"Department of Medical Biology, University of Melbourne, Parkville, Victoria 3010, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Douglas J.","family":"Hilton","sequence":"additional","affiliation":[{"name":"Molecular Medicine Divisions, The Walter and Eliza Hall Institute of Medical Research, Parkville, 3052, Australia; and"},{"name":"Department of Medical Biology, University of Melbourne, Parkville, Victoria 3010, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Warren S.","family":"Alexander","sequence":"additional","affiliation":[{"name":"Cancer and Haematology and"},{"name":"Department of Medical Biology, University of Melbourne, Parkville, Victoria 3010, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[2011,12,27]]},"reference":[{"key":"e_1_3_3_1_2","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1111\/j.1751-553X.2008.01102.x","article-title":"The classification and diagnosis of erythrocytosis","volume":"30","author":"McMullin MF","year":"2008","unstructured":"MF McMullin, The classification and diagnosis of erythrocytosis. 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