Glucose-6-Phosphatase Dehydrogenase Deficiency: Diagnosis at Presentation

  • Ritu Gogia
  • Reena De
  • Prabhajyot Chopra
Keywords: G-6-PD, Hemolysis


Glucose-6-phosphate dehydrogenase (G6PD) deficiency, a most common enzyme deficiency worldwide, causes a spectrum of disease including neonatal hyperbilirubinemia with acute and chronic hemolysis. Persons with this condition also may be asymptomatic. This X-linked inherited disorder most commonly affects persons of African, Asian, Mediterranean or Middle-Eastern descent.  Approximately 400 million people are affected worldwide. This is a case of a 37 year old man who presented with a typical clinical and haematological picture of favism. There was no initial difficulty in confirming G6PD deficiency because the enzyme concentrations were compatible with heterozygosity for G6PD deficiency. It is uncommon for the patient to present with low G6PD level at presentation; hence this case is being reported.


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