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Pyruvate kinase deficiency and leg ulcers
Blood
|May 1, 1976
Summary
A novel pyruvate kinase (PK) variant causes hemolytic anemia and leg ulcers in a family. This PK deficiency variant shows altered enzyme kinetics and reduced stability, potentially impacting red blood cell properties.
Area of Science:
- Biochemistry
- Hematology
- Genetics
Background:
- Pyruvate kinase (PK) deficiency is a genetic disorder causing hemolytic anemia.
- Leg ulcers are a known, though less common, complication of PK deficiency.
Observation:
- A family presented with a new PK variant, with four of five affected homozygous members exhibiting leg ulcers.
- The propositus, an 18-year-old male, experienced recurrent hemolytic anemia crises and leg ulcers.
- A splenectomy and skin graft were unsuccessful in treating the leg ulcer.
Findings:
- Dialyzed hemolysates revealed a kinetically abnormal PK enzyme, resistant to fructose diphosphate activation.
- The enzyme exhibited moderately decreased thermostability with normal electrophoretic mobility.
- This specific PK variant appears linked to the manifestation of leg ulcers.
Implications:
- The findings suggest a correlation between specific PK variants and the development of leg ulcers in PK deficiency.
- Altered PK enzyme kinetics may affect red blood cell rheology in vivo, contributing to ulcer formation.
- Further research into PK variants and their rheologic effects could inform treatment strategies for associated complications.