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Erythrocyte pyruvate kinase deficiency in an old‐order Amish cohort: Longitudinal risk and disease management
Author(s) -
Rider Nicholas L.,
Strauss Kevin A.,
Brown Krysta,
Finkenstedt Armin,
Puffenberger Erik G.,
Hendrickson Christine L.,
Robinson Donna L.,
Muenke Nikolas,
Tselepis Chris,
Saunders Lauren,
Zoller Heinz,
Morton D. Holmes
Publication year - 2011
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.22118
Subject(s) - pyruvate kinase deficiency , medicine , pyruvate kinase , hemochromatosis , population , hemolytic anemia , disease , pediatrics , cohort , hepcidin , anemia , environmental health , glycolysis , metabolism
Pyruvate kinase deficiency is a chronic illness with age specific consequences. Newborns suffer life‐threatening hemolytic crisis and hyperbilirubinemia. Adults are at risk for infections because of asplenia, pregnancy‐related morbidity, and may suffer organ damage because of systemic iron overload. We describe 27 Old Order Amish patients (ages 8 months–52 years) homozygous for c.1436G>A mutations in PKLR . Each subject had a predictable neonatal course requiring packed red blood cell transfusions (30 ± 5 mL/kg) to control hemolytic disease and intensive phototherapy to prevent kernicterus. Hemochromatosis affected 29% ( n = 4) of adult patients, who had inappropriately normal serum hepcidin (34.5 ± 12.7 ng/mL) and GDF‐15 (595 ± 335pg/mL) relative to hyperferritinemia (769 ± 595 mg/dL). A high prevalence of HFE gene mutations exists in this population and may contribute to iron‐related morbidity. Based on our observations, we present a strategy for long‐term management of pyruvate kinase deficiency. Am. J. Hematol. 2011. © 2011 Wiley‐Liss, Inc.