CASE 23
A 2-year-old black girl is being seen by the hematologist after her pediatrician
found her to be severely anemic with splenomegaly and jaundice. Her mother
gives a possible history of a “blood problem” in her family but doesn’t know
for sure. Her hemoglobin electrophoresis was normal, and the complete blood
count (CBC) revealed a normocytic anemia. The platelet and white blood cell
counts are normal. On the peripheral smear, there are many bizarre erythro-
cytes, including spiculated cells. A diagnosis of pyruvate kinase deficiency is
made.
What is the biochemical mechanism for this disorder?
How is this disorder inherited?
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