{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T02:29:49Z","timestamp":1780540189146,"version":"3.54.1"},"reference-count":36,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2011,8,3]],"date-time":"2011-08-03T00:00:00Z","timestamp":1312329600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J Hematol"],"published-print":{"date-parts":[[2011,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Pyruvate kinase deficiency is a chronic illness with age specific consequences. Newborns suffer life\u2010threatening hemolytic crisis and hyperbilirubinemia. Adults are at risk for infections because of asplenia, pregnancy\u2010related morbidity, and may suffer organ damage because of systemic iron overload. We describe 27 Old Order Amish patients (ages 8 months\u201352 years) homozygous for c.1436G&gt;A mutations in <jats:italic>PKLR<\/jats:italic>. Each subject had a predictable neonatal course requiring packed red blood cell transfusions (30 \u00b1 5 mL\/kg) to control hemolytic disease and intensive phototherapy to prevent kernicterus. Hemochromatosis affected 29% (<jats:italic>n<\/jats:italic> = 4) of adult patients, who had inappropriately normal serum hepcidin (34.5 \u00b1 12.7 ng\/mL) and GDF\u201015 (595 \u00b1 335pg\/mL) relative to hyperferritinemia (769 \u00b1 595 mg\/dL). A high prevalence of <jats:italic>HFE<\/jats:italic> gene mutations exists in this population and may contribute to iron\u2010related morbidity. Based on our observations, we present a strategy for long\u2010term management of pyruvate kinase deficiency. Am. J. Hematol. 2011. \u00a9 2011 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajh.22118","type":"journal-article","created":{"date-parts":[[2011,6,30]],"date-time":"2011-06-30T11:47:51Z","timestamp":1309434471000},"page":"827-834","source":"Crossref","is-referenced-by-count":34,"title":["Erythrocyte pyruvate kinase deficiency in an old\u2010order Amish cohort: Longitudinal risk and disease management"],"prefix":"10.1002","volume":"86","author":[{"given":"Nicholas L.","family":"Rider","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin A.","family":"Strauss","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Krysta","family":"Brown","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Armin","family":"Finkenstedt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erik G.","family":"Puffenberger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine L.","family":"Hendrickson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donna L.","family":"Robinson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nikolas","family":"Muenke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chris","family":"Tselepis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauren","family":"Saunders","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heinz","family":"Zoller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. 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