Glucose-6-phosphate deficiency
(Redirected from G6PD deficiency)
Background
- Abbreviation: G6PD
- X-Linked recessive; protects against Malaria
- Mild form exists, which predominantly affects men of African decent. It is typically self-limited because it affects older RBCs (with less G6PD left)
- More severe form occurs predominantly in men of Mediterranean descent (specifically Greeks and Italians). Causes a more severe hemolytic anemia because RBCs of any age are involved
- Nonimmune mediated hemolytic anemia
- Stress or drugs can cause hemoglobin precipitation within the RBC
- Leads to removal of the cell from circulation via the spleen
Precipitants
- Infection
- Fava beans
- Medications
- Nitrofurantoin
- Phenazopyridine
- Dapsone
- Chloramphenicol
- Antimalarials (e.g. quinine, mefloquine)
- Sulfonamides
- Ciprofloxacin, norfloxacin
- Methylene blue
- Vitamin K analogues (e.g. warfarin)
Clinical Features
- Hemolytic anemia
- Fatigue
- Jaundice
- Splenomegaly
Complications
- Severe hemolysis and anemia
- Cardiovascular collapse
Differential Diagnosis
Anemia
RBC Loss
RBC consumption (Destruction/hemolytic)
- Hereditary
- Acquired
- Microangiopathic Hemolytic Anemia (MAHA)
- Autoimmune hemolytic anemia
Impaired Production (Hypochromic/microcytic)
- Iron deficiency
- Anemia of chronic disease
- Thalassemia
- Sideroblastic anemia
Aplastic/myelodysplastic (normocytic)
Megaloblastic (macrocytic)
- Vitamin B12/folate deficiency
- Drugs (chemo)
- HIV
Evaluation
Workup
- CBC
- Heinz Bodies and Bite Cells on peripheral smear
- Retic Count
- Retic count high
- Coombs negative: G6PD, SCD, spherocytosis, microangiopathic hemolysis
- Retic count high
Management[1]
- Identify and discontinue precipitating agent
- Supportive care for anemia, with transfusions rarely needed
- Hemolysis usually self-limited, resolving within 8-14 days
- Infants
- Prolonged neonatal jaundice due to G6PD deficiency may require phototherapy
- Exchange transfusion for severe neonatal jaundice
Alternative Antibiotics
- Cephalexin (Keflex)
Disposition
Also See
References
- ↑ Schick P et al. eMedicine. Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency Treatment & Management. Sep 29, 2015. http://emedicine.medscape.com/article/200390-treatment#showall