Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency

Hematology

Overview

Definition

X-linked recessive enzymopathy causing episodic hemolytic anemia.

Epidemiology

Varies globally depending on genetics, environment, or exposure.

Etiology & Risk Factors

  • Genetic mutation protecting against malaria but susceptible to oxidative stress.

Clinical Symptoms

  • Dark urine
  • jaundice
  • back pain following exposure to fava beans
  • sulfa drugs
  • or infection.

Clinical Approach

Diagnosis

  • G6PD assay (wait until acute hemolysis resolves)
  • Smear (Heinz bodies
  • Bite cells).

Management

  • Avoid oxidative triggers
  • supportive during crises.

Complications

  • Acute renal failure from hemoglobinuria.