Screening for iron overload and HFE mutations in a university hospital.

The hypochromic red cell: a new parameter for monitoring of iron supplementa-tion during rhEPO therapy. Detection of functional iron-deficiency during erythropoietin treatment a new approach. Br Med J 1992; 304:225-6. 5. Salmon Ceron D, Fontbonne A, Saba J. Lower survival in AIDS patients receiving dapsone compared with aerolized pentamidine for secondary prophylaxis of pneumocystis carinii pneumonia. percentage of hypochromic erythrocytes as markers of functional iron deficiency during therapy with ery-thropoietin in patients with advanced acquired immunodeficiency syndrome. Hereditary hemochromatosis (HH) screening is based on transferrin saturation and serum ferritin concentration. These criteria are used in hospitals although many patients without HH show the same iron abnormalities. Our study detected the HFE mutations in only a few patients (5 out of 55) who had a positive screening test. In hospitals additional criteria (hepatitis, alcoholism, etc.) should be considered. Sir, Hereditary hemochromatosis (HH) is probably the most prevalent genetic disorder among Europeans and their descendants. 1,2 Some studies have shown that the frequency of C282Y mutation ranges from 2 to 3% in our area of Spain. 3,4 Screening for this condition is based on transferrin saturation and/or serum ferritin measurements. 5 A number of cutoff points have demonstrated good sensitivity and speci-ficity. 5 However, most of these studies have been carried out in primary care centers. 5,6 In this regard, patients with a positive screening test were studied in a third level hospital to ascertain whether the HFE-related mutations were implicated. A prospective blind study was performed on 55 consecutive individuals who were outpatients , aged ≥ 30 years and showed a transferrin saturation ≥ 50% and a serum ferritin ≥450 mg/L. Clinical data concerning iron overload disorders (clinical HH), hematologic disorders and liver disorders were recorded. The C282Y and H63D mutations of the HFE gene were studied using a polymerase chain reaction. 7 A patient was considered to have HH when homozy-gosity for the mutation C282Y (phenotype: YY/HH) or compound heterozygosity for the C282Y and the H63D mutations (CY/HD) was demonstrated. Hepatic disorders were found in 38 cases (69%) (29 hepatitis C virus, 8 alcoholism and 1 with both). Malignant hematologic disorders were recorded in 13 cases (23.6%), 10 requiring transfusions (6 myelo-dysplastic syndrome, 3 acute leukemia and 1 idio-pathic myelofibrosis). Non-malignant hematologic disorders were demonstrated in 2 cases (3.6%) (1 hereditary xerocytosis and 1 hereditary spherocyto-sis). Only two cases with HH had been previously diagnosed. Three patients (5.5%) were homozygous …