Related Experiment Videos
[Iron overload in congenital hemolytic anemia caused by pyruvate kinase deficiency. A major late complication]
1INSERM U. 160, Association Claude Bernard et Service d'Hématologie clinique de l'Hôpital Beaujon, Clichy.
Insights
Patients with erythrocyte pyruvate kinase (PK) deficiency often develop systemic iron overload, unrelated to transfusions. Early detection and management, including iron chelation, are crucial for preventing complications like liver fibrosis.
Area of Science:
- Hematology
- Genetics
- Internal Medicine
Context:
- Congenital, non-spherocytic hemolytic anemia due to erythrocyte pyruvate kinase (PK) deficiency.
- Long-term follow-up (18-27 years) of patients diagnosed with PK deficiency.
Purpose:
- To investigate systemic iron overload in patients with erythrocyte pyruvate kinase (PK) deficiency.
- To assess the relationship between iron overload, blood transfusions, and genetic factors (e.g., idiopathic hemochromatosis).
Summary:
- Twelve patients with PK deficiency were evaluated for iron overload.
- Nine out of ten patients without multiple transfusions showed biochemical signs of iron overload.
- Hepatic histology revealed significant iron overload, with cirrhosis in one and portal fibrosis in three cases, often developing in the 3rd and 4th decades of life.
Impact:
- Highlights the high prevalence of systemic iron overload in PK deficiency, independent of transfusion history.
- Underscores the need for preventive strategies, including transfusion management and iron chelation therapy (e.g., deferoxamine).
- Suggests early monitoring for iron overload in individuals with PK deficiency to mitigate hepatic and other complications.
Abstract:
Twelve patients (5 women and 7 men, aged from 19 to 54 years) presenting with congenital, non-spherocytic haemolytic anaemia due to erythrocyte pyruvate kinase (PK) deficiency were investigated for systemic iron overload 18 to 27 years after the diagnosis was made. One patient had, beside PK deficiency, idiopathic haemochromatosis demonstrated by the HLA A3 and B14 markers. Another, 21-year old male patient had received more than 100 blood transfusions. In both patients, blood ferritin levels were as high as 5,584 and 9,665 g/litre respectively. Among the remaining 10 patients, 9 had biochemical signs of iron overload, such as high serum iron levels, reduced total siderophilin saturation capacity and blood ferritin levels of about 1,500 g/litre. Hepatic histology could be obtained from 5 patients and showed significant iron overload with cirrhosis in one case and clear-cut portal fibrosis in 3 cases. In all but the patient with multiple transfusions the iron overload was unrelated to transfusions, being present in their absence, usually during the 3rd and 4th decades of their life. The finding of iron overload requires preventive measures such as limitation of transfusions and elimination of iron by deferoxamine therapy.