Erythrocyte pyruvate kinase deficiency in an old-order Amish cohort: Longitudinal risk and disease management
Erythrocyte pyruvate kinase deficiency in an old-order Amish cohort: Longitudinal risk and disease management
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DOI：
10.1002/ajh.22118
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发表时间：
2011-10-01
影响因子：
12.8
通讯作者：
Morton, D. Holmes
中科院分区：
文献类型：
--
作者：
Rider, Nicholas L.;Strauss, Kevin A.;Morton, D. Holmes
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. 86:827-834, 2011. (C) 2011 Wiley-Liss, Inc.
