Pyruvate kinase deficiency as a cause of extreme hyperbilirubinemia in neonates from a polygamist community

Journal of Perinatology

Volumn 30, Issue 3, 2010, Pages 233-236

  Christensen, R D ^a,b   Eggert, L D ^a,c   Baer, V L ^a,b   Smith, K N ^c  

^a Women and Newborns Clinical Program   (United States)

^b McKay Dee Hospital Center   (United States)

^c Dixie Regional Medical Center   (United States)

Author keywords

Anemia; Hemolysis; Jaundice; Neonate; PK deficiency

Indexed keywords

BILIRUBIN; HEMOGLOBIN; PYRUVATE KINASE;

ANEMIA; ARTICLE; BLOOD TRANSFUSION; CAUCASIAN; CLINICAL ARTICLE; CONSANGUINITY; COOMBS TEST; DISEASE SEVERITY; ENZYME DEFICIENCY; ERYTHROCYTE COUNT; EXCHANGE BLOOD TRANSFUSION; GESTATIONAL AGE; HUMAN; HYPERBILIRUBINEMIA; KERNICTERUS; MEAN CORPUSCULAR HEMOGLOBIN; NEUROLOGIC DISEASE; NEWBORN; NEWBORN HEMOLYTIC DISEASE; PHOTOTHERAPY; POLYGAMY; PREVALENCE; PYRUVATE KINASE DEFICIENCY; RETICULOCYTE COUNT; RISK FACTOR; UNITED STATES;

ANEMIA, HEMOLYTIC, CONGENITAL NONSPHEROCYTIC; CHRISTIANITY; CONSANGUINITY; HUMANS; INCIDENCE; INFANT, NEWBORN; JAUNDICE, NEONATAL; MARRIAGE; PYRUVATE KINASE; UTAH;

EID: 77649126311     PISSN: 07438346     EISSN: 14765543     Source Type: Journal    
DOI: 10.1038/jp.2009.118     Document Type: Article

References (17)

1. Glader B. Hereditary hemolytic anemias due to red blood cell enzyme disorders. In: Greer JP, Foerster J, Rodgers GM, Paraskevas F, Glader B, Arber DA, Means Jr RT (eds). Wintrobe's Clinical Hematology, 12th edn, Lippincott/Williams & Wilkins: Philadelphia, 2009, pp 942-944.
2. Zanella A, Ferno E, Bianchi P, Valentini G. Red cell pyruvate kinase deficiency: molecular and clinical aspects. Br J Haematol 2005; 130(1): 11-25.
3. Zanella A, Fermo E, Bianchi P, Chiarelli LR, Valentini G. Pyruvate kinase deficiency: the genotype-phenotype association. Blood Rev 2007; 21(4): 217-231.
4. Muir WA, Beutler E, Wasson C. Erythrocyte pyruvate kinase deficiency in the Ohio Amish: origin and characterization of the mutant enzyme. Am J Hum Genet 1984; 36(3): 634-639.
5. Bowman H. Pyruvate kinase deficient hemolytic anemia in an Amish isolate. Am J Hum Genet 1965; 17: 1-8.
6. Beutler E, Gelbart T. Estimating the prevalence of pyruvate kinase deficiency from the gene frequency in the general white population. Blood 2000; 959(1): 3585-3588.
7. Subcommittee on Hyperbilirubinemia, American Academy of Pediatrics. Clinical Practice Guideline Management of Hyperbilirubinemia in the Newborn Infant 35 or More Weeks of Gestation. Pediatrics 2004; 114: 297-319.
8. Eggert LD, Wiedmeier SE, Wilson J, Christensen RD. The effect of instituting a prehospital-discharge newborn bilirubin screening program in an 18-hospital health system. Pediatrics 2007; 117: e855-e862.
9. Christensen RD, Jopling J, Henry E, Wiedmeier SE. The erythrocyte indices of neonates, defined using data from over 12 000 patients in a multihospital health care system. J Perinatol 2008; 28(1): 24-28.
10. Christensen RD, Henry E. Hereditary spherocytosis in neonates with hyperbilirubinemia. Pediatrics 2009; 123: (in press).
11. Michaels LA, Cohen AR, Zhao H, Raphael RI, Manno CS. Screening for hereditary spherocytosis by use of automated erythrocyte indexes. J Pediatr 1997; 130(6): 957-960.
12. Qurtom HA, al-Saleh QU, Lubani MM, Hassanein A, Kaddoorah N, Qurtom MA et al. The value of red cell distribution width in the diagnosis of anaemia in children. Eur J Pediatr 1989; 148: 745-748.
13. Johnson L, Bhutani VK, Karp K, Sivieri EM, Shapiro SM. Clinical report from the pilot USA kernicterus registry (1991 to 2004). J Perinatol 2009; 29(Suppl 1): S25-S45.
14. Stevenson DK, Wong RJ, DeSandre GH, Vreman HJ. A primer on neonatal jaundice. Adv Pediatr 2004; 51: 263-288.
15. Newman TB, Liljestrand P, Escobar GJ. Infants with bilirubin levels of 30 mg/dL or more in a large managed care organization. Pediatrics 2003; 111: 1303-1311.
16. Kaplan M, Hammerman C, Vreman HJ, Wong RJ, Stevenson DK. Severe hemolysis with normal blood count in a glucose-6-phosphate dehydrogenase deficient neonate. J Perinatol 2008; 28: 306-309.
17. Oski FA, Nathan DG, Sidel VW, Diamond LK. Extreme hemolysis and red-cell distortion in erythrocyte puryvate kinase deficiency. N Engl J Med 1964; 270: 1023-1030.