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[Glucose-6-phosphate dehydrogenase deficiency and hereditary hemolytic anemia]

A M Salvati1, D Maffi, P Caprari

  • 1Laboratorio di Biochimica Clinica, Istituto Superiore di Sanità, Roma.

Annali Dell'Istituto Superiore Di Sanita
|January 25, 2000
PubMed

Insights

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common genetic disorder. Early diagnosis and surveillance are key to preventing hemolytic disease, especially in high-prevalence regions.

Area of Science:

  • Genetics
  • Biochemistry
  • Hematology

Context:

  • Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most prevalent enzymopathy globally.
  • It exhibits significant genetic heterogeneity with over 100 identified mutations and 400 variants.
  • High prevalence rates are observed in tropical Africa, the Middle East, Mediterranean regions, Asia, and Oceania.

Purpose:

  • To summarize the epidemiology, genetics, clinical manifestations, and management strategies for G6PD deficiency.
  • To highlight the importance of early diagnosis, patient education, and surveillance for disease prevention.

Summary:

  • G6PD deficiency is a sex-linked inherited disorder characterized by reduced erythrocyte G6PD activity.
  • Clinical consequences include neonatal jaundice and drug/infection/fava bean-induced hemolytic crises.
  • Rare variants can cause chronic non-spherocytic hemolytic anemia.

Impact:

  • Early diagnosis, education, and epidemiologic surveillance are crucial for preventing hemolytic disease.
  • These measures should be integrated into national health programs, particularly in high-prevalence countries.
  • Effective management strategies can mitigate the health burden of this common genetic disorder.

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