G6PD Deficiency: | Case 1 | Case 2 | Case 3

Case 1 (by Yeung, Chap-Yung)

Patient: 3 years old boy

Source: Canada, 1978

Presenting features:
  Child was healthy and thriving, requesting for thorough health check.

When examined:
  The 3-year-old boy was in excellent health with no abnormal features.
  In view of the severe anemia and jaundice before death occurring in his elder brother, hemolytic condition induced by infection and precipitated by drugs was suspected in this family.

Relevant Investigations:
  Both the boy and his mother were found to have G6PD deficiency.

Background:
  Elder brother of 5 just passed away following a short illness, with "acute urinary tract infection" for which he was treated with septrin and aspirin. By third day, he developed rapidly progressive jaundice and became increasingly drowsy and lethargic. He was rushed to the A&E department and collapsed within 10 minutes of arrival. Child was noted also to be markedly pale necessitating transfusion with un-cross-matched blood. He died quickly within the hour of arrival, with tentative diagnosis of "Reye Syndrome".
  Reports on the 5 year old brother were requested which failed to reveal brain pathology typical of Reye Syndrome, but he showed Hb 3 gm/dl and no external blood loss. G6PD status was NOT checked.
  ( On retrospect, he was most likely G6PD deficient, since both his mother and brother were G6PD deficient. )

Lessons:
1) G6PD deficiency is highly prevalent among southern Chinese ( 4.42% in boys; 0.45% homozygous and 8.4% heterozygous in girls )
2) Acute hemolytic jaundice occurs readily in certain acute infections, and provoked also by some drugs ( sulfa and aspirin as in this case ) and several herbs.

Case 1 | Case 2 | Case 3