Glucose-6-phosphate deficiency

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Background

G6PD pathway
  • 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

Clinical Features

Pediatric jaundice with icterus of sclera.

Complications

Differential Diagnosis

Anemia

RBC Loss

RBC consumption (Destruction/hemolytic)

Impaired Production (Hypochromic/microcytic)

  • Iron deficiency
  • Anemia of chronic disease
  • Thalassemia
  • Sideroblastic anemia

Aplastic/myelodysplastic (normocytic)

  • Marrow failure
  • Chemicals (e.g. ETOH)
  • Radiation
  • Infection (HIV, parvo)

Megaloblastic (macrocytic)

Evaluation

Workup

  • CBC
    • Heinz Bodies and Bite Cells on peripheral smear
  • Retic Count
    • Retic count high
      • Coombs negative: G6PD, SCD, spherocytosis, microangiopathic hemolysis

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

Disposition

Also See

References

  1. Schick P et al. eMedicine. Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency Treatment & Management. Sep 29, 2015. http://emedicine.medscape.com/article/200390-treatment#showall