Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most commonenzyme deficiencyin the world. Approximately 400 million people are affected worldwide. There is great variability in severity based on which mutation is inherited.
G6PD is an enzyme found in red blood cells that keeps certain toxins from building up in the cells. A deficiency in this enzyme causes the red blood cell to be destroyed (hemolysis), leading toanemiaandjaundice(yellowing of the skin).
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Risk Factors
The most significant risk factor for G6PD is having a parent with an X-linked recessive condition. If only the mother carries the X-linked recessive disease, the chances of children inheriting depend on gender. While a son has a 50% chance of being unaffected or affected, a daughter has a 50% chance of being unaffected but a 50% chance of inheriting a mutated version of the gene. Additionally, if only the father carries the gene, sons are unaffected, and daughters remain carriers.The type of mutation inherited will determine the activity level of the G6PD enzyme and the resulting severity of symptoms.
The gene for G6PD is located on the X chromosome, making males most susceptible to G6PD deficiency (X-linked disorder).G6PD deficiency protects people from being infected with malaria, so it is more commonly seen in areas with high malaria infection rates, such as Europe, and Asia.In the United States, 10% of African-American males have G6PD deficiency.
Symptoms
Symptoms depend on which mutation you inherit. Some people may never be diagnosed, as no symptoms are present. Some patients with G6PD deficiency have symptoms only when exposed to certain medications or foods (see the list below). Some people may be diagnosed as newborns after experiencing severe jaundice (also called hyperbilirubinemia).In those patients and in those with more severe forms of G6PD deficiency with chronic hemolysis, symptoms include:
Diagnosis
Reticulocytes are immature red blood cells sent from the bone marrow in response to the anemia. Anemia with elevated reticulocyte count is consistent with hemolytic anemia.Other labs might include a bilirubin count, which will be elevated. Bilirubin is released from red blood cells when they are broken down and causes jaundice during hemolytic crises.
If G6PD deficiency is suspected, a G6PD level can be sent off. A low G6PD level is consistent with G6PD deficiency. Unfortunately, in the midst of an acute hemolytic crisis, a normal G6PD level does not rule out deficiency. The numerous reticulocytes present during the hemolytic crisis contain normal levels of G6PD, causing a false negative.If highly suspected, the testing should be repeated when a patient is at baseline status.
Treatment
Avoid medications or foodsthat trigger hemolytic (red blood cell breakdown) crises. Along with moth balls, which trigger symptoms of G6PD deficiency, the following medications and foods should also be avoided:
Blood transfusions are used when the anemia is severe and the patient is symptomatic.
14 SourcesVerywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Tripathi P, Agarwal S, Muthuswamy S.Prevalence and genetic characterization of glucose-6-phosphate dehydrogenase deficiency in anemic subjects from Uttar Pradesh, India.J Pediatr Genet. 2019;8(2):47-53. doi:10.1055/s-0039-1677729MedlinePlus.Glucose-6-phosphate dehydrogenase deficiency.National Center for Advancing Translational Sciences, Genetic and Rare Diseases Information Center.Glucose-6-phosphate dehydrogenase deficiency.DelFavero JJ, Jnah AJ, Newberry D.Glucose-6-phosphate dehydrogenase deficiency and the benefits of early screening.Neonatal Netw. 2020;39(5):270-282. doi:10.1891/0730-0832.39.5.270National Organization of Rare Disorders.Glucose-6-phosphate dehydrogenase deficiency.Awab GR, Aaram F, Jamornthanyawat N, et al.Protective effect of Mediterranean-type glucose-6-phosphate dehydrogenase deficiency againstPlasmodium vivaxmalaria.eLife. 2021;10:e62448. doi:10.7554/eLife.62448MedlinePlus.G6PD deficiency.Harcke SJ, Rizzolo D, Harcke HT.G6PD deficiency: an update.JAAPA. 2019;32(11):21-26. doi:10.1097/01.JAA.0000586304.65429.a7Beretta A, Manuelli M, Cena H.Favism: clinical features at different ages.Nutrients. 2023;15(2):343. doi:10.3390/nu15020343G6PD Deficiency Foundation.What is G6PD Deficiency?MedlinePlus.Reticulocyte count.MedlinePlus.Bilirubin blood test.Opsahl M, Chen W.Blister and bite cells in G6PD deficiency.Int J Lab Hematol. 2022;44(1):55-56. doi:10.1111/ijlh.13689Eziokwu AS, Angelini D.New diagnosis of G6PD deficiency presenting as severe rhabdomyolysis.Cureus. 2018;10(3):e2387. doi:10.7759/cureus.2387
14 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Tripathi P, Agarwal S, Muthuswamy S.Prevalence and genetic characterization of glucose-6-phosphate dehydrogenase deficiency in anemic subjects from Uttar Pradesh, India.J Pediatr Genet. 2019;8(2):47-53. doi:10.1055/s-0039-1677729MedlinePlus.Glucose-6-phosphate dehydrogenase deficiency.National Center for Advancing Translational Sciences, Genetic and Rare Diseases Information Center.Glucose-6-phosphate dehydrogenase deficiency.DelFavero JJ, Jnah AJ, Newberry D.Glucose-6-phosphate dehydrogenase deficiency and the benefits of early screening.Neonatal Netw. 2020;39(5):270-282. doi:10.1891/0730-0832.39.5.270National Organization of Rare Disorders.Glucose-6-phosphate dehydrogenase deficiency.Awab GR, Aaram F, Jamornthanyawat N, et al.Protective effect of Mediterranean-type glucose-6-phosphate dehydrogenase deficiency againstPlasmodium vivaxmalaria.eLife. 2021;10:e62448. doi:10.7554/eLife.62448MedlinePlus.G6PD deficiency.Harcke SJ, Rizzolo D, Harcke HT.G6PD deficiency: an update.JAAPA. 2019;32(11):21-26. doi:10.1097/01.JAA.0000586304.65429.a7Beretta A, Manuelli M, Cena H.Favism: clinical features at different ages.Nutrients. 2023;15(2):343. doi:10.3390/nu15020343G6PD Deficiency Foundation.What is G6PD Deficiency?MedlinePlus.Reticulocyte count.MedlinePlus.Bilirubin blood test.Opsahl M, Chen W.Blister and bite cells in G6PD deficiency.Int J Lab Hematol. 2022;44(1):55-56. doi:10.1111/ijlh.13689Eziokwu AS, Angelini D.New diagnosis of G6PD deficiency presenting as severe rhabdomyolysis.Cureus. 2018;10(3):e2387. doi:10.7759/cureus.2387
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
Tripathi P, Agarwal S, Muthuswamy S.Prevalence and genetic characterization of glucose-6-phosphate dehydrogenase deficiency in anemic subjects from Uttar Pradesh, India.J Pediatr Genet. 2019;8(2):47-53. doi:10.1055/s-0039-1677729MedlinePlus.Glucose-6-phosphate dehydrogenase deficiency.National Center for Advancing Translational Sciences, Genetic and Rare Diseases Information Center.Glucose-6-phosphate dehydrogenase deficiency.DelFavero JJ, Jnah AJ, Newberry D.Glucose-6-phosphate dehydrogenase deficiency and the benefits of early screening.Neonatal Netw. 2020;39(5):270-282. doi:10.1891/0730-0832.39.5.270National Organization of Rare Disorders.Glucose-6-phosphate dehydrogenase deficiency.Awab GR, Aaram F, Jamornthanyawat N, et al.Protective effect of Mediterranean-type glucose-6-phosphate dehydrogenase deficiency againstPlasmodium vivaxmalaria.eLife. 2021;10:e62448. doi:10.7554/eLife.62448MedlinePlus.G6PD deficiency.Harcke SJ, Rizzolo D, Harcke HT.G6PD deficiency: an update.JAAPA. 2019;32(11):21-26. doi:10.1097/01.JAA.0000586304.65429.a7Beretta A, Manuelli M, Cena H.Favism: clinical features at different ages.Nutrients. 2023;15(2):343. doi:10.3390/nu15020343G6PD Deficiency Foundation.What is G6PD Deficiency?MedlinePlus.Reticulocyte count.MedlinePlus.Bilirubin blood test.Opsahl M, Chen W.Blister and bite cells in G6PD deficiency.Int J Lab Hematol. 2022;44(1):55-56. doi:10.1111/ijlh.13689Eziokwu AS, Angelini D.New diagnosis of G6PD deficiency presenting as severe rhabdomyolysis.Cureus. 2018;10(3):e2387. doi:10.7759/cureus.2387
Tripathi P, Agarwal S, Muthuswamy S.Prevalence and genetic characterization of glucose-6-phosphate dehydrogenase deficiency in anemic subjects from Uttar Pradesh, India.J Pediatr Genet. 2019;8(2):47-53. doi:10.1055/s-0039-1677729
MedlinePlus.Glucose-6-phosphate dehydrogenase deficiency.
National Center for Advancing Translational Sciences, Genetic and Rare Diseases Information Center.Glucose-6-phosphate dehydrogenase deficiency.
DelFavero JJ, Jnah AJ, Newberry D.Glucose-6-phosphate dehydrogenase deficiency and the benefits of early screening.Neonatal Netw. 2020;39(5):270-282. doi:10.1891/0730-0832.39.5.270
National Organization of Rare Disorders.Glucose-6-phosphate dehydrogenase deficiency.
Awab GR, Aaram F, Jamornthanyawat N, et al.Protective effect of Mediterranean-type glucose-6-phosphate dehydrogenase deficiency againstPlasmodium vivaxmalaria.eLife. 2021;10:e62448. doi:10.7554/eLife.62448
MedlinePlus.G6PD deficiency.
Harcke SJ, Rizzolo D, Harcke HT.G6PD deficiency: an update.JAAPA. 2019;32(11):21-26. doi:10.1097/01.JAA.0000586304.65429.a7
Beretta A, Manuelli M, Cena H.Favism: clinical features at different ages.Nutrients. 2023;15(2):343. doi:10.3390/nu15020343
G6PD Deficiency Foundation.What is G6PD Deficiency?
MedlinePlus.Reticulocyte count.
MedlinePlus.Bilirubin blood test.
Opsahl M, Chen W.Blister and bite cells in G6PD deficiency.Int J Lab Hematol. 2022;44(1):55-56. doi:10.1111/ijlh.13689
Eziokwu AS, Angelini D.New diagnosis of G6PD deficiency presenting as severe rhabdomyolysis.Cureus. 2018;10(3):e2387. doi:10.7759/cureus.2387
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