Glucose-6-Phosphate Dehydrogenase Deficiency Clinical Presentation

  • Author: Suzanne M Carter, MS; Chief Editor: Emmanuel C Besa, MD   more...
 
Updated: Jan 10, 2012
 

History

Most patients with glucose-6-phosphatase dehydrogenase (G6PD) deficiency are asymptomatic. Some patients present with or report a history of neonatal jaundice, often requiring exchange transfusion. A history of infection or drug-induced hemolysis is also common.[11] Gallstones may be a prominent feature. Splenomegaly may be present.

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Physical

Jaundice and splenomegaly may be present during a glucose-6-phosphatase dehydrogenase (G6PD) deficiency crisis.

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Causes

Glucose-6-phosphatase dehydrogenase (G6PD) deficiency is a genetic condition. The molecular basis for this disease results from mutations in the G6PD locus at Xq28. The gene is 18 kilobases (kb) long with 13 exons, leading to an enzyme of 515 amino acids. More than 60 mutations in the G6PD gene have been documented; most of the mutations are single-base changes that result in an amino acid substitution.

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Contributor Information and Disclosures
Author

Suzanne M Carter, MS  Senior Genetic Counselor, Associate, Department of Obstetrics and Gynecology, Division of Reproductive Genetics, Montefiore Medical Center, Albert Einstein College of Medicine

Suzanne M Carter, MS is a member of the following medical societies: American Bar Association

Disclosure: Nothing to disclose.

Coauthor(s)

Susan J Gross, MD, FRCS(C), FACOG, FACMG  Codirector, Division of Reproduction Genetics, Associate Professor, Department of Obstetrics and Gynecology, Albert Einstein College of Medicine

Susan J Gross, MD, FRCS(C), FACOG, FACMG is a member of the following medical societies: American College of Medical Genetics, American College of Obstetricians and Gynecologists, American Institute of Ultrasound in Medicine, American Medical Association, American Society of Human Genetics, and Royal College of Physicians and Surgeons of Canada

Disclosure: Nothing to disclose.

Specialty Editor Board

Karen Seiter, MD  Professor, Department of Internal Medicine, Division of Oncology/Hematology, New York Medical College

Karen Seiter, MD is a member of the following medical societies: American Association for Cancer Research, American College of Physicians, and American Society of Hematology

Disclosure: Novartis Honoraria Speaking and teaching; Novartis Consulting fee Speaking and teaching; Eisai Honoraria Speaking and teaching; Celgene Honoraria Speaking and teaching

Francisco Talavera, PharmD, PhD  Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Salary Employment

Marcel E Conrad, MD  Distinguished Professor of Medicine (Retired), University of South Alabama College of Medicine

Marcel E Conrad, MD is a member of the following medical societies: Alpha Omega Alpha, American Association for the Advancement of Science, American Association of Blood Banks, American Chemical Society, American College of Physicians, American Physiological Society, American Society for Clinical Investigation, American Society of Hematology, Association of American Physicians, Association of Military Surgeons of the US, International Society of Hematology, Society for Experimental Biology and Medicine, and Southwest Oncology Group

Disclosure: No financial interests None None

Rajalaxmi McKenna, MD, FACP  Southwest Medical Consultants, SC, Department of Medicine, Good Samaritan Hospital, Advocate Health Systems

Rajalaxmi McKenna, MD, FACP is a member of the following medical societies: American Society of Clinical Oncology, American Society of Hematology, and International Society on Thrombosis and Haemostasis

Disclosure: Nothing to disclose.

Chief Editor

Emmanuel C Besa, MD  Professor, Department of Medicine, Division of Hematologic Malignancies, Kimmel Cancer Center, Jefferson Medical College of Thomas Jefferson University

Emmanuel C Besa, MD is a member of the following medical societies: American Association for Cancer Education, American College of Clinical Pharmacology, American Federation for Medical Research, American Society of Clinical Oncology, American Society of Hematology, and New York Academy of Sciences

Disclosure: Nothing to disclose.

References

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  2. Peters AL, Van Noorden CJ. Glucose-6-phosphate Dehydrogenase Deficiency and Malaria: Cytochemical Detection of Heterozygous G6PD Deficiency in Women. J Histochem Cytochem. Jun 22 2009;[Medline].

  3. Beutler E. Glucose-6-phosphate dehydrogenase deficiency. N Engl J Med. Jan 17 1991;324(3):169-74. [Medline].

  4. Beutler E. G6PD deficiency. Blood. Dec 1 1994;84(11):3613-36. [Medline]. [Full Text].

  5. Nkhoma ET, Poole C, Vannappagari V, et al. The global prevalence of glucose-6-phosphate dehydrogenase deficiency: a systematic review and meta-analysis. Blood Cells Mol Dis. May-Jun 2009;42(3):267-78. [Medline].

  6. Valaes T, Drummond GS, Kappas A. Control of hyperbilirubinemia in glucose-6-phosphate dehydrogenase-deficient newborns using an inhibitor of bilirubin production, Sn-mesoporphyrin. Pediatrics. May 1998;101(5):E1. [Medline]. [Full Text].

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  10. Ozbay Hosnut F, Ozcay F, et al. Etiology of hemolysis in two patients with hepatitis A infection: glucose-6-phosphate dehydrogenase deficiency or autoimmune hemolytic anemia. Eur J Pediatr. Dec 2008;167(12):1435-9. [Medline].

  11. Yang Y, Li Z, Nan P, Zhang X. Drug-induced glucose-6-phosphate dehydrogenase deficiency-related hemolysis risk assessment. Comput Biol Chem. Jun 2011;35(3):189-92. [Medline].

  12. Minucci A, Giardina B, Zuppi C, Capoluongo E. Glucose-6-phosphate dehydrogenase laboratory assay: How, when, and why?. IUBMB Life. Oct 21 2008;[Medline].

  13. Wang FL, Boo NY, Ainoon O, et al. Comparison of detection of glucose-6-phosphate dehydrogenase deficiency using fluorescent spot test, enzyme assay and molecular method for prediction of severe neonatal hyperbilirubinaemia. Singapore Med J. Jan 2009;50(1):62-7. [Medline].

  14. Mesner O, Hammerman C, Goldschmidt D, et al. Glucose-6-phosphate dehydrogenase activity in male premature and term neonates. Arch Dis Child Fetal Neonatal Ed. Nov 2004;89(6):F555-7. [Medline]. [Full Text].

  15. Murki S, Dutta S, Narang A, Sarkar U, Garewal G. A randomized, triple-blind, placebo-controlled trial of prophylactic oral phenobarbital to reduce the need for phototherapy in G6PD-deficient neonates. J Perinatol. May 2005;25(5):325-30. [Medline].

  16. Samanta S, Kumar P, Kishore SS, et al. Donor blood glucose 6-phosphate dehydrogenase deficiency reduces the efficacy of exchange transfusion in neonatal hyperbilirubinemia. Pediatrics. Jan 2009;123(1):e96-e100. [Medline].

  17. Beutler E, Westwood B, Prchal JT, et al. New glucose-6-phosphate dehydrogenase mutations from various ethnic groups. Blood. Jul 1 1992;80(1):255-6. [Medline]. [Full Text].

  18. Sklar GE. Hemolysis as a potential complication of acetaminophen overdose in a patient with glucose-6-phosphate dehydrogenase deficiency. Pharmacotherapy. May 2002;22(5):656-8. [Medline].

  19. Valiaveedan S, Mahajan C, Rath GP, Bindra A, Marda MK. Anaesthetic management in patients with glucose-6-phosphate dehydrogenase deficiency undergoing neurosurgical procedures. Indian J Anaesth. Jan 2011;55(1):68-70. [Medline]. [Full Text].

 
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Heinz bodies. Acute hemolysis from glucose-6-phosphatase dehydrogenase deficiency is linked to the development of Heinz bodies, which are composed of denatured hemoglobin.
 
 
 
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