{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T06:23:15Z","timestamp":1791181395765,"version":"4.1.0"},"reference-count":16,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2004,3,25]],"date-time":"2004-03-25T00:00:00Z","timestamp":1080172800000},"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":[[2004,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A 28\u2010year\u2010old asymptomatic male of Iranian Jewish (Meshadi) heritage was found on routine exam to have an erythrocytosis (RBC = 6.22 \u00d7 10<jats:sup>12<\/jats:sup>\/l, Hgb = 19.2 g\/dl, Hct = 58.9%). Splenomegaly was absent on physical exam. There was no family history of erythrocytosis. His oxygen dissociation curve was left\u2010shifted with a <jats:italic>p<\/jats:italic>50 of 19 mmHg (normal = 25\u201332 mmHg). Hemoglobin electrophoresis showed no abnormalities. DNA sequencing of the hemoglobin \u03b2 globin gene and both \u03b1 globin genes did not reveal a mutation. A 2,3\u2010bisphosphoglycerate (BPG) level was markedly decreased at 0.3 \u03bcmol\/g Hb (normal = 11.4\u201319.4 \u03bcmol\/g Hb). The patient's bisphosphoglycerate mutase (BPGM) enzyme activity was also markedly decreased at 0.16 IU\/g Hb (normal = 4.13\u20135.43 IU\/g Hb). A red cell enzyme panel revealed a markedly decreased G\u20106\u2010PD level (0.3 U\/g Hb, normal = 8.6\u201318.6 U\/g Hb). His parents and a brother were also available for evaluation. Both parents showed normal 2,3\u2010BPG levels but BPGM activity approximately 50% of normal. Paradoxically, the brother showed normal BPGM activity but a slightly decreased 2,3\u2010BPG level. All family members had markedly decreased G\u20106\u2010PD activity. DNA sequencing of the BPGM gene showed the propositus to be homozygous for 185 G\u2192A, Arg 62 Gln in exon 2. Thus, the erythrocytosis in this patient is secondary to low 2,3\u2010BPG levels, due to a deficiency in BPG mutase. This appears due to consanguinity within this family. Am. J. Hematol. 75:205\u2013208, 2004. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajh.20014","type":"journal-article","created":{"date-parts":[[2004,3,25]],"date-time":"2004-03-25T19:33:44Z","timestamp":1080243224000},"page":"205-208","source":"Crossref","is-referenced-by-count":39,"title":["Erythrocytosis due to bisphosphoglycerate mutase deficiency with concurrent glucose\u20106\u2010phosphate dehydrogenase (G\u20106\u2010PD) deficiency"],"prefix":"10.1002","volume":"75","author":[{"given":"James D.","family":"Hoyer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven L.","family":"Allen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ernest","family":"Beutler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathleen","family":"Kubik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carol","family":"West","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virgil F.","family":"Fairbanks","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,3,25]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-95-1-71"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1097\/00008480-200002000-00006"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0037-1963(01)90135-0"},{"key":"e_1_2_1_5_2","volume-title":"Red cell metabolism: a manual of biochemical methods","author":"Beutler E","year":"1971"},{"key":"e_1_2_1_6_2","doi-asserted-by":"crossref","first-page":"2643","DOI":"10.1182\/blood.V80.10.2643.2643","article-title":"Compound heterozygosity in complete erythrocyte bisphosphoglycerate mutase deficiency","volume":"80","author":"Lemarchandel V","year":"1992","journal-title":"Blood"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1006\/bcmd.2001.0381"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00284487"},{"key":"e_1_2_1_9_2","doi-asserted-by":"crossref","first-page":"15785","DOI":"10.1016\/S0021-9258(19)37657-4","article-title":"Isolation and characterization of the human 2,3\u2010bisphosphoglycerate mutase gene","volume":"263","author":"Joulin V","year":"1988","journal-title":"J Biol Chem"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF01733168"},{"key":"e_1_2_1_11_2","first-page":"269","article-title":"D\u00e9ficit familial en diphosphoglyc\u00e9rate mutase: etude hematologique et biochimique","volume":"12","author":"Cartier P","year":"1972","journal-title":"Nouv Rev Fr Hematol"},{"key":"e_1_2_1_12_2","first-page":"251","article-title":"Studies on a large kindred with hemolytic anemia and low erythrocyte 2,3\u2010DPG","volume":"21","author":"Harkness DR","year":"1978","journal-title":"Prog Clin Biol Res"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V51.6.1107.1107"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI109218"},{"key":"e_1_2_1_15_2","first-page":"69","article-title":"D\u00e9ficit en diphosphoglyc\u00e9rate mutase: nouveaux cas associ\u00e9s \u00e8 une polyglobulie","volume":"26","author":"Galacteros F","year":"1984","journal-title":"Nouv Rev Fr Hematol"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/0300-9084(92)90149-9"},{"key":"e_1_2_1_17_2","doi-asserted-by":"crossref","first-page":"7837","DOI":"10.1016\/S0021-9258(18)83118-0","article-title":"Isolation, characterization and structure of mutant 89 Arg\u2192Cys bisphosphoglycerate mutase","volume":"264","author":"Rosa R","year":"1989","journal-title":"J Biol Chem"}],"container-title":["American Journal of Hematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajh.20014","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajh.20014","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T16:06:15Z","timestamp":1696694775000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajh.20014"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,3,25]]},"references-count":16,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2004,4]]}},"alternative-id":["10.1002\/ajh.20014"],"URL":"https:\/\/doi.org\/10.1002\/ajh.20014","archive":["Portico"],"relation":{},"ISSN":["0361-8609","1096-8652"],"issn-type":[{"value":"0361-8609","type":"print"},{"value":"1096-8652","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,3,25]]}}}