{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T21:55:18Z","timestamp":1790891718250,"version":"4.1.0"},"reference-count":19,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2006,7,11]],"date-time":"2006-07-11T00:00:00Z","timestamp":1152576000000},"content-version":"vor","delay-in-days":9291,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J Hematol"],"published-print":{"date-parts":[[1981,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A familial erythrocytosis is described. The propositus is a 52\u2010year\u2010old man who was found, on routine testing, to have an erythrocytosis with a Hb level of 19.8 g\/dl. Physical examination and laboratory findings revealed an associated hemolysis. The P<jats:sub>50<\/jats:sub> of the stripped hemolysate was normal. The 2,3\u2010DPG level was reduced to 15% of normal but that of ATP was increased more than twofold. Red cell diphosphoglycerate mutase activity was normal as were the levels of all red cell glycolytic and hexose monophosphate shunt enzymes with the exception of pyruvate kinase (PK). The level of the latter was elevated to 24.5 U\/g(normal:6.3 \u00b1 1.1). The electrophoretic pattern of hemolysate PK was abnormal, showing three additional bands; one of these migrated as the M<jats:sub>2<\/jats:sub> isozyme. The findings were similar in the propositus's daughter and her daughter and in one of the two brothers of the propositus. The second brother and the son of the first brother also exhibited erythrocytosis but their red cell 2,3\u2010DPG levels were normal. In addition, the level of their RBC PK was reduced to between 50% and 60% of normal and the abnormal electrophoretic bands were absent. The erythrocytosis appears to be inherited as an autosomal\u2010dominant trait. The relationship between the PK abnormalities appears complex.<\/jats:p>","DOI":"10.1002\/ajh.2830100108","type":"journal-article","created":{"date-parts":[[2007,2,21]],"date-time":"2007-02-21T06:45:22Z","timestamp":1172040322000},"page":"47-55","source":"Crossref","is-referenced-by-count":12,"title":["Hereditary pyruvate kinase abnormalities associated with erythrocytosis"],"prefix":"10.1002","volume":"10","author":[{"given":"Raymonde","family":"Rosa","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Max\u2010Audit","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victor","family":"Izrael","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yves","family":"Beuzard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jo\u00e9lle","family":"Thillet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean","family":"Rosa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,7,11]]},"reference":[{"key":"e_1_2_1_2_2","first-page":"549","article-title":"Hereditary high ATP content of human erythrocytes","volume":"23","author":"Zurcher C","year":"1965","journal-title":"Bibl Haematol"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(65)90726-6"},{"key":"e_1_2_1_4_2","first-page":"367","article-title":"Pyruvate kinase deficiency","volume":"8","author":"Tanaka KR","year":"1971","journal-title":"Sem Hematol"},{"key":"e_1_2_1_5_2","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1182\/blood.V51.5.971.971","article-title":"Isoelectric focusing of human hemoglobin; its application to screening, to the characterization of 70 variants, and to the study of modified fractions of normal hemoglobins","volume":"51","author":"Basset P","year":"1978","journal-title":"Blood"},{"key":"e_1_2_1_6_2","first-page":"715","volume-title":"Methods in Enzymology","author":"Nozaki Y","year":"1967"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(65)90045-X"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1977.tb00589.x"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI105433"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI109218"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI107826"},{"key":"e_1_2_1_12_2","volume-title":"Red cell metabolism. A manual biochemical methods","author":"Beutler E","year":"1971"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1979.tb03751.x"},{"key":"e_1_2_1_14_2","first-page":"199","volume-title":"Erythrocyte Structure and Function","author":"Oelshlegel FJ","year":"1975"},{"key":"e_1_2_1_15_2","first-page":"251","volume-title":"The Red Cell","author":"Harkness DR","year":"1978"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00584243"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/0005-2744(78)90009-8"},{"key":"e_1_2_1_18_2","unstructured":"BlackJA RittenbergMB StanderfeRJ PetersonJS:Hereditary persistence of fetal erythrocyte pyruvate kinase in the Basenji dog. International Conference on Red Cell Metabolism and Function. 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