II. Epidemiology

  1. Caucasians of Mediterranean ancestry (Class II)
    1. Greek patients
    2. Jewish patients
    3. Sardinian patients (from island of Italy)
  2. Black patients or African descent (Class III)
  3. Asian patients
  4. Filipino patients

III. Pathophysiology

  1. Glucose-6-phosphate dehydrogenase (G6PD)
    1. Catalyzes NADP to NADPH (pentose phosphate path)
    2. NADPH prevents oxidative damage to cells
    3. RBCs depend on G6PD for sole pathway to NADPH
    4. RBCs are most susceptible to insufficient G6PD
  2. Methemoglobin (Fe3+) may form spontaneously
    1. Methemoglobin is typically reduced to normal Hemoglobin (Fe2+) by cellular mechanisms
    2. NADPH is important in combating oxidative stress and converting Hemoglobin back to Fe2+
    3. However in G6PD Deficiency, this fails and Methemoglobinemia is unchecked
  3. Results in acute Hemolytic Anemia
  4. Drug-induced Hemolysis affects older cells
    1. Younger cells have adequate enzyme levels to survive
  5. G6PD mutations occur on distal long arm of C Chromosome
    1. X -Linked Disorder

IV. Causes

  1. See Medications in G6PD Deficiency
    1. Onset within 72 hours of intake
  2. Infection (most common cause)
    1. Salmonella
    2. Eschirichia coli
    3. Beta-hemolytic Streptococcus
    4. Rickettsia
    5. Viral Hepatitis
    6. Influenza A
  3. Fava beans (Italian Broad Beans)
    1. Bell Beans
    2. Broad Beans
    3. English Dwarf Beans
    4. Haba Beans
    5. Horse Beans
    6. Pigeon Beans
    7. Silkworm Beans
    8. Tic Beans

V. Symptoms and Signs

  1. Usually asymptomatic
  2. See Hemolytic Anemia for acute episodes

VI. Differential Diagnosis

VIII. Complications

  1. Increased risk of Sepsis

IX. Prevention

  1. Avoid precipitating factors
    1. See Medications in G6PD Deficiency
    2. Keep Immunizations up-to-date
  2. Treat Anemia following Hemolytic Anemia episode
    1. Iron Supplementation
    2. Folic Acid supplementation
  3. Measures that are not recommended (no benefit)
    1. Splenectomy
    2. Vitamin E
    3. Selenium

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Related Studies

Ontology: Favism (C0015702)

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, ソラマメチュウドク
Swedish Favism
Czech favismus, Favismus
Finnish Favismi
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
Swedish Glukosfosfatdehydrogenas
Czech glukosafosfátdehydrogenasa
Finnish Glukoosifosfaattidehydrogenaasi
Italian Glucosio-6-fosfato deidrogenasi, Glucosiofosfato deidrogenasi
German GLUCOSE PHOSPHAT DEHYDROGENASE 06, Glucose-6-Phosphat-Dehydrogenase, Glucosephosphat-Dehydrogenase, Glukosephosphat-Dehydrogenase
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