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G6PD Deficiency in Adults: Diagnosis and Management

X-linked enzymatic disorder with episodic hemolysis triggered by oxidative stress and dietary triggers

Written by: Saygı Hospital Health Guide Editorial Board
Published:

This content is for general information; please consult your physician for diagnosis and treatment.

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Hematoloji department. Book Appointment →

What is G6PD Deficiency in Adults: Diagnosis and Management?

G6PD deficiency is an X-linked recessive disorder affecting glucose-6-phosphate dehydrogenase enzyme essential for protecting red cells from oxidative stress.

Geographic distribution shows highest prevalence in malaria-endemic regions providing presumed evolutionary advantage.

Genetic variants include common (G6PD A-, G6PD Mediterranean) and rare forms with varying enzyme activity and clinical severity.

Classification ranges from severe (Class I, chronic non-spherocytic hemolytic anemia) to mild (Class IV, normal activity) with most variants causing episodic hemolysis only with triggers.

Diagnosis is based on quantitative G6PD enzyme activity measurement, ideally during steady state outside hemolytic episodes.

Symptoms

Asymptomatic between hemolytic episodes in most patients with normal blood counts.
Acute hemolysis triggered by oxidative stressors with sudden onset jaundice, dark urine and back pain.
Symptoms of acute anemia including fatigue, weakness, dyspnea and palpitations.
Chronic non-spherocytic hemolytic anemia in severe variants with persistent anemia and splenomegaly.
Neonatal jaundice with risk of kernicterus in affected newborns particularly with Mediterranean variant.

Risk Factors

Male sex with X-linked inheritance pattern affecting hemizygous males more severely than heterozygous females.
Family history of G6PD deficiency or unexplained hemolysis with specific triggers.
Specific ethnic backgrounds including Mediterranean, African, Middle Eastern and Asian populations.
Exposure to oxidant medications including dapsone, primaquine, sulfa drugs, nitrofurantoin and certain antibiotics.
Fava bean ingestion (favism) particularly in Mediterranean variant carriers.

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Acute hemolysis with jaundice, dark urine and anemia following exposure to potential triggers warrants urgent evaluation.
  • Family history of G6PD deficiency particularly in male relatives prompts screening for affected family members.
  • Before initiating medications with potential to trigger hemolysis in at-risk populations.
  • Persistent unexplained anemia or hemolysis warrants comprehensive hematologic evaluation including G6PD testing.
  • Pregnancy planning and antenatal care benefit from screening for fetal and neonatal risk assessment.

Treatment Methods

01
Patient education emphasizing trigger avoidance with comprehensive list of medications, foods and chemicals to avoid.
02
Removal of offending agent during acute hemolytic episode with supportive care including hydration and monitoring.
03
Red cell transfusions for severe symptomatic anemia during acute episodes.
04
Treatment of chronic non-spherocytic hemolytic anemia in Class I variants with folate supplementation, monitoring and selective splenectomy in severe cases.
05
Comprehensive care including pre-medication screening protocols, medical alert identification, family screening and counseling, vaccination recommendations and management of comorbidities prevent serious hemolytic complications and optimize quality of life.

Which Department to Visit?

You can visit our Hematoloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.