[Iron overload in congenital hemolytic anemia caused by pyruvate kinase deficiency. A major late complication].
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.
Boivin
P
P
INSERM U. 160, Association Claude Bernard et Service d'Hématologie clinique de l'Hôpital Beaujon, Clichy.
Galand
C
C
D000328:Adult; D000745:Anemia, Hemolytic, Congenital / Q000097:blood / Q000378:metabolism*; D001803:Blood Transfusion; D005260:Female; D005293:Ferritins / Q000097:blood; D006801:Humans; D007501:Iron / Q000097:blood*; D008297:Male; D008875:Middle Aged; D011770:Pyruvate Kinase / Q000172:deficiency*; D014168:Transferrin / Q000032:analysis
D014168:Transferrin; D005293:Ferritins; D007501:Iron; D011770:Pyruvate Kinase
La surcharge en fer dans l'anémie hémolytique congénitale par déficit en pyruvate kinase. Une complication tardive majeure.