Hyperferritinemia

Serum ferritin and transferrin saturation levels in β0 and β+ thalassemia patients

I. F. Estevão, P. Junior, P., and Bonini-Domingos, C. R., Serum ferritin and transferrin saturation levels in β0 and β+ thalassemia patients, vol. 10, pp. 632-639, 2011.

There have been few studies on the mutations that cause heterozygous beta-thalassemia and how they affect the iron profile. One hundred and thirty-eight individuals were analyzed, 90 thalasemic β0 and 48 thalasemic β+, identified by classical and molecular methods. Mutations in the hemochromatosis (HFE) gene, detected using PCR-RFLP, were found in 30.4% of these beta-thalassemic patients; heterozygosity for H63D (20.3%) was the most frequent.

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