Hematology and Oncology Book

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G6PD DeficiencyAka: G6PD, Favism

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  1. See Also
    1. Hemolytic Anemia
  2. 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
  3. 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. Results in acute Hemolytic Anemia
    3. Drug-induced Hemolysis affects older cells
      1. Younger cells have adequate enzyme levels to survive
    4. G6PD mutations occur on distal long arm of C chromosome
  4. 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
  5. Symptoms and Signs
    1. Usually asymptomatic
    2. See Hemolytic Anemia for acute episodes
  6. Differential Diagnosis
    1. See Drug-Induced Hemolytic Anemia
  7. Labs
    1. See Hemolytic Anemia
    2. See G6PD Deficiency Detection
  8. Complications
    1. Increased risk of Sepsis
  9. 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
  10. References
    1. Golan in Goldman (2000) Cecil Medicine, p. 873-75
    2. Beutler (1994) Blood 84:3613
    3. Frank (2005) Am Fam Physician 72:1277

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.
ConceptsDisease or Syndrome (T047)
ICD9282.2
MSHD005236
EnglishFavism, Favisms
Spanishfavismo
Parent ConceptsAnemia, Hemolytic (C0002878), Food Poisoning (C0016479), Glucosephosphate Dehydrogenase Deficiency (C0017758), Plant Poisoning (C0032087), Non-autoimmune hemolytic anemia NOS (C0028283), Ambiguous concept (C1274012)
SourcesDXP, LCH, MSH, MTHICD9, NCI, NDFRT, SCTSPA, SNOMEDCT
Derived from the NIH UMLS (Unified Medical Language System)


Glucosephosphate Dehydrogenase (C0017757)

Definition (NCI)Encoded as 2 alternative isoforms by human housekeeping G6PD Gene (G6PD Family), 514-/560-aa 59-kDa homodimeric or homotetrameric cytosolic Glucose-6-Phosphate Dehydrogenase mainly produces NADPH, an electron donor to oxidizing agents and in biosynthetic reactions. G6PD deficiency may cause jaundice, hemolysis, or non-spherocytic hemolytic anemia. (NCI)
ConceptsAmino Acid, Peptide, or Protein (T116) , Enzyme (T126)
MSHD005954
EnglishEC 1.1.1.49, G-6PD, G6P - Glucose-6-phosphate dehydrogenase, G6PD, G6PD - Glucose-6-phosphate dehydrogenase, Glucose 6 Phosphate Dehydrogenase, Glucose 6-phosphate dehydrog., GLUCOSE PHOSPHATE DEHYDROGENASE 06, Glucose-6 phosphate dehydrog., Glucose-6-Phosphate Dehydrogenase, Glucosephosphate Dehydrogenase, GPD
SpanishG - 6PD, glucosa - 6 - fosfato deshidrogenasa
Parent ConceptsAlcohol Oxidoreductases (C0001954), Carbohydrate Dehydrogenases (C0006997), Oxidoreductase (C0030016), Carbohydrate metabolism disorder marker (C0443499), Red cell enzyme (C0443773), Duplicate concept (C1274013)
SourcesCSP, DXP, LCH, LNC, MSH, MTH, NCI, SCTSPA, SNOMEDCT
Derived from the NIH UMLS (Unified Medical Language System)



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