History

Most patients with glucose-6-phosphate dehydrogenase (G6PD) deficiency are asymptomatic. Neonatal jaundice may occur.^[25]Jaundice usually appears within 24 hours after birth, at the same time as or slightly earlier than physiologic jaundice but later than in blood group alloimmunization.^{[2, 26]}Exchange transfusions are often required.

Most patients are usually not anemic, but episodes of intravascular hemolysis and consequent anemia can be triggered by infections, medicines that induce oxidative stresses, fava beans, and ketoacidosis.^[27]Hemolysis begins 24 to 72 hours after exposure to oxidant stress. When hemolysis is severe, patients present with weakness, tachycardia, jaundice, and hematuria. Some patients have a history of chronic hemolytic anemia.

Acute hemolysis is self-limiting, resolving after 8 to 14 days. Hemolytic episodes destroy aging red blood cells (RBCs) that have the lowest levels of G6PD, New RBCs produced to compensate for anemia contain high levels of G6PD. Young RBCs are not vulnerable to oxidative damage and hence limit the duration of hemolysis.

Physical Examination

Physical examination findings may be normal in patients with G6PD deficiency. Jaundice and splenomegaly may be present in patients with severe hemolysis.^[6]. Patients may have right upper quadrant tenderness due to hyperbilirubinemia and cholelithiasis. Skin ulcers are an infrequent complication that may occur in patients with severe G6PD deficiency.

Differential Diagnoses

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Media Gallery

G6PD deficiency: Heinz bodies in a peripheral smear stained with a supravital stain. Heinz bodies are denatured hemoglobin, which occurs in G6PD deficiencies and in unstable hemoglobin disorders.

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Author

Srikanth Nagalla, MD, MS, FACP Chief of Benign Hematology, Miami Cancer Institute, Baptist Health South Florida; Clinical Professor of Medicine, Florida International University, Herbert Wertheim College of Medicine

Srikanth Nagalla, MD, MS, FACP is a member of the following medical societies: American Society of Hematology, Association of Specialty Professors

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: Alexion; Alnylam; Kedrion; Sanofi; Dova; Apellis; Pharmacosmos<br/>Serve(d) as a speaker or a member of a speakers bureau for: Sobi; Sanofi; Rigel.

Specialty Editor Board

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

Disclosure: Received salary from Medscape for employment. for: Medscape.

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, The Society of Federal Health Professionals (AMSUS), International Society of Hematology, Society for Experimental Biology and Medicine, SWOG

Disclosure: Partner received none from No financial interests for none.

Chief Editor

Emmanuel C Besa, MD Professor Emeritus, Department of Medicine, Division of Hematologic Malignancies and Hematopoietic Stem Cell Transplantation, 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 Society of Clinical Oncology, American College of Clinical Pharmacology, American Federation for Medical Research, American Society of Hematology, New York Academy of Sciences

Disclosure: Nothing to disclose.

Additional Contributors

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, American Society of Hematology

Disclosure: Received honoraria from Novartis for speaking and teaching; Received consulting fee from Novartis for speaking and teaching; Received honoraria from Celgene for speaking and teaching.

Paul Schick, MD † Emeritus Professor, Department of Internal Medicine, Jefferson Medical College of Thomas Jefferson University; Research Professor, Department of Internal Medicine, Drexel University College of Medicine; Adjunct Professor of Medicine, Lankenau Hospital

Paul Schick, MD is a member of the following medical societies: American College of Physicians, American Society of Hematology

Disclosure: Nothing to disclose.

Acknowledgements

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. 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.

Sections Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency
Overview
Presentation
DDx
Workup
Treatment
Medication
Questions & Answers
References

Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency Clinical Presentation

History

Physical Examination

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