erythrocyte enzyme deficiency
A group of inherited disorders affecting red blood cell metabolism, leading to hemolytic anemia in affected children.
Full Definition
Erythrocyte enzyme deficiencies are a diverse group of inherited disorders affecting enzymes crucial for red blood cell metabolism and survival. These deficiencies can affect glycolytic pathways (such as pyruvate kinase deficiency) or the pentose phosphate pathway (such as glucose-6-phosphate dehydrogenase deficiency). In pediatric patients, these conditions typically present with chronic or episodic hemolytic anemia, jaundice, and sometimes splenomegaly. Diagnosis requires specific enzyme assays, and management may include avoiding triggering factors, supportive care, and in severe cases, splenectomy. The clinical severity varies widely depending on the specific enzyme affected and the degree of deficiency.
Usage
Usage note: Use specific enzyme names when known rather than the general term.
In Context
- "The child's chronic hemolytic anemia prompted screening for erythrocyte enzyme deficiency following normal hemoglobin electrophoresis." — Laboratory requisition