Valutazione dell’accumulo corporeo totale di ferro in pazienti β-talassemici

β-Thalassemia represents a common single-gene disorder characterised by a defective production of the globin β-chains, which form the haemoglobin molecule. Defective haemoglobin generates a chronic anaemic state in affected patients during the first decade of life, which leds to a progressive accumulation of iron in body tissues, due to recurrent emotransfusional therapy. Overload of iron in endocrine glands, myocardial tissue and liver represents the most evident complication in patients affected by β-thalassemia maior. Measurement of the iron concentration in a liver-biopsy specimen (LIC) by flame atomic absorption spectrophotometry (FAAS) is the reference method for assessing body iron stores in β-thalassemic patients. FAAS offers a great sensitivity for trace metal analysis and determination of liver iron concentration was performed using a Perkin Elmer Analyst 800, equipped with an air-acetylene flame burner head. A pre-analytic phase was required for essication and mineralization of liver-biopsy specimen, in order to obtain a dry sample for AAS analysis. LIC quantitative determination is performed by using an external standard method, with a calibration curve ranging from 0.25 to 9 ppm. Liver iron concentration is age, iron-chelating and tissue dependent, and its quantitation is linear in the range 0.5-40 mg per gram of liver, dry weight (normal value < 1.6). Quantitative determination of LIC in FAAS represents a very useful tool for estimation of iron overload and for monitoring of therapeutical follow-up after bone marrow transplantation in β-thalassemic patients.