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722            Part VI:  The Erythrocyte                                                                                                                                     Chapter 47:  Erythrocyte Enzyme Disorders             723




                 591. Jacob H, Jandl JH: A simple visual screening test for G6PD deficiency employing ascor-    623. Al Rimawi HS, Al Sheyyab M, Batieha A, et al: Effect of desferrioxamine in acute hae-
                  bate and cyanide. N Engl J Med 274:1162–1167, 1966.    molytic anaemia of glucose-6-phosphate dehydrogenase deficiency.  Acta Haematol.
                 592. Oski FA: Red cell metabolism in the newborn infant. V. Glycolytic intermediates and   101:145–148, 1999.
                  glycolytic enzymes. Pediatrics 44:84–91, 1969.        624. Ekert H, Rawlinson I: Deferoxamine and favism. N Engl J Med 312:1260, 1985.
                 593. Travis SF, Kumar SP, Paez PC, et al: Red cell metabolic alterations in postnatal life in     625. Makarona  K,  Caputo VS, Costa  JR,  et  al:  Transcriptional  and  epigenetic  basis  for
                  term infants: Glycolytic enzymes and glucose-6-phosphate dehydrogenase. Pediatr Res   restoration of G6PD enzymatic activity in human G6PD-deficient cells.  Blood 124:
                  14:1349–1352, 1980.                                    134–141, 2014.
                 594. Gross RT, Schroeder EA, Brounstein SA: Energy metabolism in the erythrocytes of pre-    626. Ationu A, Humphries A, Lalloz MR, et al: Reversal of metabolic block in glycoly-
                  mature infants compared to full term newborn infants and adults. Blood 21:755–763,   sis by enzyme replacement in triosephosphate isomerase-deficient cells.  Blood 94:3
                  1963.                                                  193–3198, 1999.
                 595. Lestas AN, Rodeck CH, White JM: Normal activities of glycolytic enzymes in the fetal     627. Tanphaichitr VS, Suvatte V, Issaragrisil S, et al: Successful bone marrow transplanta-
                  erythrocytes. Br J Haematol 50:439–444, 1982.          tion in a child with red blood cell pyruvate kinase deficiency. Bone Marrow Transplant
                 596. Konrad PN, Valentine WN, Paglia DE: Enzymatic activities and glutathione content of   26:689–690, 2000.
                  erythrocytes in the newborn: Comparison with red cells of older normal subjects and     628. Kanno H, Aisaki, K.-I., Hamada T, et al: Ex vivo treatment of erythroid cells with gly-
                  those with comparable reticulocytosis. Acta Haematol 48:193–201, 1972.  colytic intermediates for metabolic correction of pyruvate kinase deficiency [abstract].
                 597. Carrell RW, Kay R: A simple method for the detection of unstable haemoglobins. Br J   Blood 104: P3689, 2004.
                  Haematol. 23:615–619, 1972.                           629. Kung C, Hixon J, Kosinski P, et al: Small molecule activation of pyruvate kinase normal-
                 598. Valentine WN, Paglia DE, Fink K, et al: Lead poisoning. Association with hemolytic   izes metabolic activity in red cells from patients with pyruvate kinase deficiency-associ-
                  anemia, basophilic stippling, erythrocyte pyrimidine 5′-nucleotidase deficiency, and   ated hemolytic anemia, in American Society of Hematology (ASH) 55th Annual meeting,
                  intraerythrocytic accumulation of pyrimidines. J Clin Invest 58:926–932, 1976.  New Orleans, LA, 2013.
                 599. Beutler E, Kuhl W, Fox M, et al: Prenatal diagnosis of glucose-6-P dehydrogenase     630. Schroter W: Successful long-term phenobarbital therapy of hyperbilirubinemia in con-
                  (G6PD) deficiency. Acta Haematol 87:103–104, 1992.     genital hemolytic anemia due to glucose phosphate isomerase deficiency. Eur J Pediatr
                 600. Baronciani L, Beutler E: Prenatal diagnosis of pyruvate kinase deficiency.  Blood   135:41–43, 1980.
                  84:2354–2356, 1994.                                   631. Andersen FD, d’Amore F, Nielsen FC, et al: Unexpectedly high but still asymptomatic
                 601. Rouger H, Girodon E, Goossens M, et al: PK Mondor: Prenatal diagnosis of a frame-  iron overload in a patient with pyruvate kinase deficiency. Hematol J 5:543–545, 2004.
                  shift mutation in the LR pyruvate kinase gene associated with severe hereditary non    632. Rider NL, Strauss KA, Brown K, et al: Erythrocyte pyruvate kinase deficiency in an
                  -spherocytic haemolytic anaemia. Prenat Diagn 16:97–104, 1996.  old-order Amish cohort: Longitudinal risk and disease management. Am J Hematol
                 602. Gupta N, Bianchi P, Fermo E, et al: Prenatal diagnosis for a novel homozygous mutation   86:827–834, 2011.
                  in PKLR gene in an Indian family. Prenat Diagn 27:117–118, 2007.    633. Zanella A, Berzuini A, Colombo MB, et al: Iron status in red cell pyruvate kinase defi-
                 603. Kedar PS, Nampoothiri S, Sreedhar S, et al: First-trimester prenatal diagnosis of pyru-  ciency: Study of Italian cases. Br J Haematol 83:485–490, 1993.
                  vate kinase deficiency in an Indian family with the pyruvate kinase-Amish mutation.     634. Finkenstedt A, Bianchi P, Theurl I, et al: Regulation of iron metabolism through GDF15
                  Genet Mol Res 6:470–475, 2007.                         and hepcidin in pyruvate kinase deficiency. Br J Haematol 144:789–793, 2009.
                 604. So C-C, Tang M, Li C-H, et al: First reported case of prenatal diagnosis for pyruvate     635. Mojzikova R, Koralkova P, Holub D, et al: Iron status in patients with pyruvate kinase
                  kinase deficiency in a Chinese family. Hematology 16:377–379, 2011.  deficiency: Neonatal hyperferritinaemia associated with a novel frameshift deletion in
                 605. Pekrun A, Neubauer BA, Eber SW, et al: Triosephosphate isomerase deficiency: Bio-  the PKLR gene (p.Arg518fs), and low hepcidin to ferritin ratios. Br J Haematol 165:
                  chemical and molecular genetic analysis for prenatal diagnosis. Clin Genet 47:175–179,   556–563, 2014.
                  1995.                                                 636. Pannacciulli I, Tizianello A, Ajmar F, et al: The course of experimentally-induced
                 606. Repiso A, Corrons JL, Vulliamy T, et al: New haplotype for the Glu104Asp mutation   hemolytic anemia in a primaquine- sensitive Caucasian. A case study. Blood 25:92–95,
                  in triose-phosphate isomerase deficiency and prenatal diagnosis in a Spanish family. J   1965.
                  Inherit Metab Dis 28:807–809, 2005.                   637. Meloni T, Forteleoni G, Noja G, et al: Increased prevalence of glucose-6-phosphate
                 607. Arya R, Lalloz MR, Nicolaides KH, et al: Prenatal diagnosis of triosephosphate   dehydrogenase deficiency in patients with cholelithiasis.  Acta Haematol 85:76–78,
                  isomerase deficiency. Blood 87:4507–4509, 1996.        1991.
                 608. Hirono A, Forman L, Beutler E: Enzymatic diagnosis in non-spherocytic hemolytic     638. Petrakis NL, Wiesenfeld SL, Sams BJ, et al: Prevalence of sickle-cell trait and glucose-6-
                  anemia. Medicine (Baltimore) 67:110–117, 1988.         phosphate dehydrogenase deficiency. N Engl J Med 282:767–770, 1970.
                 609. Beutler E, Luzzatto L: Hemolytic anemia. Semin Hematol 36:38–47, 1999.    639. Heller P, Best WR, Nelson RB, et al: Clinical implications of sickle-cell trait and
                 610. von Löhneysen K, Scott TM, Soldau K, et al: Assessment of the red cell proteome of   glucose-6-phosphate dehydrogenase deficiency in hospitalized black male patients. N
                  young patients with unexplained hemolytic anemia by two-dimensional differential     Engl J Med 300:1001–1005, 1979.
                  in-gel electrophoresis (DIGE). PLoS One 7:e34237, 2012.    640. Renzaho AM, Husser E, Polonsky M: Should blood donors be routinely screened for
                 611. Barasa B, Slijper M: Challenges for red blood cell biomarker discovery through pro-  glucose-6-phosphate dehydrogenase deficiency? A systematic review of clinical studies
                  teomics. Biochim Biophys Acta 1844:1003–1010, 2014.    focusing on patients transfused with glucose-6-phosphate dehydrogenase-deficient red
                 612. Bordbar A, Jamshidi N, Palsson BO: iAB-RBC-283: A proteomically derived     cells. Transfus Med Rev 28:7–17, 2014.
                  knowledge-base of erythrocyte metabolism that can be used to simulate its physiologi-    641. Pilo F, Baronciani D, Depau C, et al: Safety of hematopoietic stem cell donation in glu-
                  cal and patho-physiological states. BMC Syst Biol 5:110, 2011.  cose 6 phosphate dehydrogenase-deficient donors. Bone Marrow Transplant 48:36–39,
                 613. Lyon GJ, Jiang T, Van Wijk R, et al: Exome sequencing and unrelated findings in the   2013.
                  context  of  complex  disease research: Ethical  and  clinical  implications.  Discov Med     642. Pamba A, Richardson ND, Carter N, et al: Clinical spectrum and severity of hemolytic
                  12:41–55, 2011.                                        anemia in glucose 6-phosphate dehydrogenase-deficient children receiving dapsone [in
                 614. Mimouni F, Shohat S, Reisner SH: G6PD-deficiency donor blood as a cause of hemoly-  process citation]. Blood 120:4123–4133, 2012.
                  sis in two preterm infants. Isr J Med Sci 22:120–122, 1986.    643. Bowman HS, McKusick VA, Dronamraju KR: Pyruvate kinase deficient hemolytic ane-
                 615. Kappas A, Drummond GS, Valaes T: A single dose of Sn-mesoporphyrin prevents   mia in an Amish isolate. Hum GenetAm J Hum Genet 17:1–8, 1965.
                  development of severe hyperbilirubinemia in glucose-6-phosphate dehydrogenase-     644. Beutler E, Duron O, Kelly BM: Improved method for the determination of blood gluta-
                  deficient newborns. Pediatrics 108:25–30, 2001.        thione. J Lab Clin Med 61:882–890, 1963.
                 616. Hamilton JW, Jones FG, McMullin MF: Glucose-6-phosphate dehydrogenase Guada-    645. Beutler E, Gelbart T: Improved assay of the enzymes of glutathione synthesis: Gam-
                  lajara—a case of chronic non-spherocytic haemolytic anaemia responding to splenec-  ma-glutamylcysteine synthetase and glutathione synthetase.  Clin Chim  Acta 158:
                  tomy and the role of splenectomy in this disorder. Hematology 9:307–309, 2004.  115–123, 1986.
                 617. Baronciani L, Tricta F, Beutler E: G6PD “campinas:” A deficient enzyme with a muta-    646. Valentine WN, Fink K, Paglia DE, et al: Hereditary hemolytic anemia with human ery-
                  tion at the far 3′ end of the gene. Hum Mutat 2:77–78, 1993.  throcyte pyrimidine 5′-nucleotidase deficiency. J Clin Invest 54:866–879, 1974.
                 618. Beutler E, Mathai CK, Smith JE: Biochemical variants of glucose-6-phosphate dehydro-    647. Torrance J, West C, Beutler E: A simple rapid radiometric assay for pyrimidine-5′-
                  genase giving rise to congenital nonspherocytic hemolytic disease. Blood 31:131–150,   nucleotidase. J Lab Clin Med 90:563–568, 1977.
                  1968.                                                 648. Beutler E, Kuhl W, Gelbart T: Blood cell phosphogluconolactonase: Assay and proper-
                 619. Corash L, Spielberg S, Bartsocas C, et al: Reduced chronic hemolysis during high-dose   ties. Br J Haematol. 62:577–586, 1986.
                  vitamin E administration in Mediterranean-type glucose-6-phosphate dehydrogenase     649. Bird TD, Hamernyik P, Nutter JY, et al: Inherited deficiency of delta-aminolevulinic
                  deficiency. N Engl J Med 303:416–420, 1980.            acid dehydratase. Am J Hum Genet 31:662–668, 1979.
                 620. Spielberg SP, Boxer LA, Corash LM, et al: Improved erythrocyte survival with high dose     650. Kamatani N, Hakoda M, Otsuka S, et al: Only three mutations account for almost all
                  vitamin E in chronic hemolyzing G6PD and glutathione synthetase deficiencies. Ann   defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese
                  Intern Med 90:53–54, 1978.                             patients. J Clin Invest 90:130–135, 1992.
                 621. Johnson GJ, Vatassery GT, Finkel B, et al: High-dose vitamin E does not decrease the     651. Hidaka Y, Palella TD, O’Toole TE, et al: Human adenine phosphoribosyltransferase.
                  rate of chronic hemolysis in glucose-6-phosphate dehydrogenase deficiency. N Engl J   Identification of allelic mutations at the nucleotide level as a cause of complete defi-
                  Med 308:1014–1017, 1983.                               ciency of the enzyme. J Clin Invest 80:1409–1415, 1987.
                 622. Newman JG, Newman TB, Bowie LJ, et al: An examination of the role of vitamin E in     652. Resta R, Thompson LF: SCID: The role of adenosine deaminase deficiency. Immunol
                  glucose-6-phosphate dehydrogenase deficiency. Clin Biochem 12:149–151, 1979.  Today 18:371–374, 1997.







          Kaushansky_chapter 47_p0689-0724.indd   722                                                                   9/17/15   6:45 PM
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