II. Epidemiology
- Caucasians of Mediterranean ancestry (Class II)
- Greek patients
- Jewish patients
- Sardinian patients (from island of Italy)
- Black patients or African descent (Class III)
- Asian patients
- Filipino patients
III. Pathophysiology
-
Glucose-6-phosphate dehydrogenase (G6PD)
- Catalyzes NADP to NADPH (pentose phosphate path)
- NADPH prevents oxidative damage to cells
- RBCs depend on G6PD for sole pathway to NADPH
- RBCs are most susceptible to insufficient G6PD
- Methemoglobin (Fe3+) may form spontaneously
- Methemoglobin is typically reduced to normal Hemoglobin (Fe2+) by cellular mechanisms
- NADPH is important in combating oxidative stress and converting Hemoglobin back to Fe2+
- However in G6PD Deficiency, this fails and Methemoglobinemia is unchecked
- Results in acute Hemolytic Anemia
- Drug-induced Hemolysis affects older cells
- Younger cells have adequate enzyme levels to survive
- G6PD mutations occur on distal long arm of C Chromosome
- X -Linked Disorder
IV. Causes
- See Medications in G6PD Deficiency
- Onset within 72 hours of intake
- Infection (most common cause)
- Salmonella
- Eschirichia coli
- Beta-hemolytic Streptococcus
- Rickettsia
- Viral Hepatitis
- Influenza A
- Fava beans (Italian Broad Beans)
- Bell Beans
- Broad Beans
- English Dwarf Beans
- Haba Beans
- Horse Beans
- Pigeon Beans
- Silkworm Beans
- Tic Beans
V. Symptoms and Signs
- Usually asymptomatic
- See Hemolytic Anemia for acute episodes
VI. Differential Diagnosis
VII. Labs
VIII. Complications
- Increased risk of Sepsis
IX. Prevention
- Avoid precipitating factors
- See Medications in G6PD Deficiency
- Keep Immunizations up-to-date
- Treat Anemia following Hemolytic Anemia episode
- Iron Supplementation
- Folic Acid supplementation
- Measures that are not recommended (no benefit)
X. References
- Golan in Goldman (2000) Cecil Medicine, p. 873-75
- Beutler (1994) Blood 84:3613-36 [PubMed]
- Frank (2005) Am Fam Physician 72:1277-82 [PubMed]
- Phillips (2018) Am Fam Physician 98(6): 354-61 [PubMed]
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| Definition (MSH) | Hemolytic anemia due to the ingestion of fava beans or after inhalation of pollen from the Vicia fava plant by persons with glucose-6-phosphate dehydrogenase deficient erythrocytes. |
| Concepts | Disease or Syndrome (T047) |
| MSH | D005236 |
| ICD10 | D55.0 |
| SnomedCT | 154801000, 267558001, 191172001, 76500009 |
| English | Favism, Favisms, favism, favism (diagnosis), Favism [Disease/Finding], Favism (disorder), favism; anemia, favism; poisoning, poisoning; favism, anemia; favism |
| Dutch | favisme, anemie; favisme, favisme; anemie, favisme; vergiftiging, vergiftiging; favisme, Favisme |
| Japanese | そらまめ中毒, ｿﾗﾏﾒﾁｭｳﾄﾞｸ |
| Swedish | Favism |
| Czech | favismus, Favismus |
| Finnish | Favismi |
| Russian | ANEMIIA PRIMAKHINOVAIA, FAVIZM, АНЕМИЯ ПРИМАХИНОВАЯ, ФАВИЗМ |
| Croatian | FAVIZAM |
| Polish | Fawizm |
| Hungarian | Favismus |
| Norwegian | Favisme |
| Spanish | favismo (trastorno), favismo, Favismo |
| French | Favisme |
| German | Favismus, Bohnenkrankheit |
| Italian | Favismo |
| Portuguese | Favismo |
Ontology: Glucosephosphate Dehydrogenase (C0017757)
| Definition (NCI) | Glucose-6-phosphate 1-dehydrogenase (515 aa, ~59 kDa) is encoded by the human G6PD gene. This protein plays a role in pentose metabolism to produce NADPH. |
| Concepts | Amino Acid, Peptide, or Protein (T116) , Enzyme (T126) |
| MSH | D005954 |
| SnomedCT | 259705000, 9024005 |
| CPT | 1011452 |
| LNC | LP15601-5, MTHU027273, LP182422-8 |
| English | Dehydrogenase, Glucose-6-Phosphate, Dehydrogenase, Glucosephosphate, Glucose 6 Phosphate Dehydrogenase, Glucose-6-Phosphate Dehydrogenase, Glucosephosphate Dehydrogenase, glucose 6 phosphate dehydrogenase, D-Glucose-6-phosphate:NADP+ 1-oxidoreductase, Glucose-6-phosphate dehydrog, GLUCOSE PHOSPHATE DEHYDROGENASE 06, GPD, G6PD - Gluc-6-ph dehydrogenase, G6P - Gluc-6-phos dehydrogen, Glucosephosphate Dehydrogenase [Chemical/Ingredient], glucose-6-phosphate dehydrogenase (G6PD), g-6pd, g6pd, glucosephosphate dehydrogenase, Glucose-6-Phosphate 1-Dehydrogenase, Glucose-6-Phosphate dehydrogenase, Glucose-6-phosphate dehydrogenase (G6PD), G-6PD, Glucose-6-phosphate dehydrogenase, G6PD - Glucose-6-phosphate dehydrogenase, G6P - Glucose-6-phosphate dehydrogenase, Glucose-6-phosphate dehydrogenase (substance), G6PD, EC 1.1.1.49 |
| Swedish | Glukosfosfatdehydrogenas |
| Czech | glukosafosfátdehydrogenasa |
| Finnish | Glukoosifosfaattidehydrogenaasi |
| Italian | Glucosio-6-fosfato deidrogenasi, Glucosiofosfato deidrogenasi |
| Russian | GLIUKOZO-6-FOSFAT-DEGIDROGENAZA, GLIUKOZOFOSFAT-DEGIDROGENAZA, ГЛЮКОЗО-6-ФОСФАТ-ДЕГИДРОГЕНАЗА, ГЛЮКОЗОФОСФАТ-ДЕГИДРОГЕНАЗА |
| German | GLUCOSE PHOSPHAT DEHYDROGENASE 06, Glucose-6-Phosphat-Dehydrogenase, Glucosephosphat-Dehydrogenase, Glukosephosphat-Dehydrogenase |
| Croatian | GLUKOZAFOSFAT DEHIDROGENAZA |
| Polish | Dehydrogenaza glukozofosforanowa |
| Japanese | グルコースリン酸デヒドロゲナーゼ, グルコース-6-リン酸-1-デヒドロゲナーゼ, グルコース-6-りん酸デヒドロゲナーゼ, グルコースりん酸デヒドロゲナーゼ, グルコース-6-リン酸デヒドロゲナーゼ, グルコース燐酸デヒドロゲナーゼ |
| Spanish | Glucofosfato Deshidrogenasa, Glucosa-Fosfato Deshidrogenasa, Glucosa Fosfato Deshidrogenasa, G-6-FD, G6FD, G-6-PD, G6PD, G - 6PD, glucosa - 6 - fosfato deshidrogenasa (sustancia), glucosa - 6 - fosfato deshidrogenasa, Glucosa-6-Fosfato Deshidrogenasa, Glucosafosfato Deshidrogenasa |
| Portuguese | G6FD, Glucose-Fosfato Desidrogenase, G6PD, G-6-PD, Glucofosfato Desidrogenase, Glucose Fosfato Desidrogenase, G-6-FD, Glucose-6-Fosfato Desidrogenase, Glucosefosfato Desidrogenase |
| French | Glucose 6-phosphate dehydrogenase |
