Hepatic iron quantitation and liver biopsy in sickle cell disease and thalassemia major, impact on monitoring and preventing the progression of iron overload due to regular transfusion therapy

grantor: University of TorontoIron accumulates and becomes toxic in transfused patients with SCD or TM. Quantitative hepatic iron concentration (HIC) using liver biopsy tissue optimizes accuracy of iron measures. The objectives of this study include determining the safety of liver biopsies, rates of iron accumulation, reliability of serum ferritin concentrations (SFC), incidence of liver damage, and efficiency of chelation therapy. From a series of 911 biopsies, 98% captured adequate tissue for analysis, and only 7 minor complications occurred (0.77%). In a second series of 18 SCD and 22 TM children, biopsies and SFCs following an initial period of transfusions revealed similar rates of iron accumulation and liver damage in both disorders. HIC exceeded thresholds of risk following 13 months of transfusions, or 110-130ccRBC/kg. A poor HIC/SFC correlation was observed. In a third series, records from 35 TM patients treated with deferoxamine or deferiprone were used to calculate chelation efficiency, revealed to be 15.1% and 2.6%, respectively.M.Sc