DISEASE SCANNER

Global Incurable Diseases Tracker

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Genetic Disorder

Glucose-6-Phosphate Dehydrogenase Deficiency

LOW SEVERITY

The most common enzyme deficiency worldwide, causing hemolytic anemia with oxidative stress. X-linked. Affects 400 million people, most commonly in malaria-endemic regions (protective against malaria). Triggers include fava beans, certain drugs, infections.

Global Affected

400.0M

Countries

63

Symptoms

Usually asymptomatic
Hemolytic anemia with triggers
Neonatal jaundice
Dark urine during hemolysis
Fatigue during episodes
Pallor

Treatment Options

Genetic counseling
Supportive care
Symptom management
Enzyme replacement (if applicable)
Physical therapy
Regular monitoring
Multidisciplinary care

Risk Factors

1Family history
2Genetic mutations
3Consanguinity
4Advanced paternal age
5Ethnic predisposition

Diagnostic Methods

  • 1Genetic testing
  • 2Clinical evaluation
  • 3Family history assessment
  • 4Specialized laboratory tests
  • 5Imaging studies
  • 6Biopsy (if applicable)

Prognosis

Excellent with avoidance of triggers. Hemolytic episodes self-limiting. Favism (in Mediterranean populations) preventable. Neonatal jaundice manageable.

Prevention

  • Genetic counseling
  • Carrier screening
  • Prenatal diagnosis
  • Preimplantation genetic diagnosis
  • Family planning

Research Status

Avoidance of triggers (fava beans, sulfa drugs, primaquine, certain antibiotics). Supportive care during hemolytic episodes. Blood transfusion if severe. Excellent prognosis with trigger avoidance.

Affected Countries

NigeriaDR CongoEthiopiaTanzaniaKenyaUgandaRWBIMozambiqueZambiaZimbabweMalawiGhanaSenegalMaliBFGNSLLRMRTDCFGQGACMIndiaPakistanBangladeshLKNPMMThailandVietnamKHLAIndonesiaPhilippinesChinaTaiwanHong KongMOSingaporeMalaysiaGreeceItalyCYMTSpainPortugalTurkeyLebanonSyriaIraqIranJordanEgyptSaudi ArabiaYemenOmanUAEQatarBHKuwait

Sources

  • https://www.ncbi.nlm.nih.gov/books/NBK1116
  • https://medlineplus.gov/genetics
  • https://rarediseases.org

Medical Disclaimer

This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.