Screening for iron overload and HFE mutations in a university hospital.
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Alcoholism↗
Biomedical subjects
M P Sardà
Publications and source records attributed to M P Sardà.
The S65C mutation in Spain. Implications for iron overload screening.
Hereditary hemochromatosis is related to mutations of the HFE gene. The role of the S65C mutation of this gene was evaluated in a Spanish population, consisting of 100 controls and 41 patients who had resulted positive to screening for iron overload. Only one patient was heterozygous for the S65C mutation, so the S65C mutation is infrequent in our area. Nevertheless, it is advisable to search for this mutation in cases with iron overload and heterozygosity for the C282Y or H63D mutations of the HFE gene.
Case-Control Studies↗
Serum transferrin receptor in polycythemia.
We measured serum transferrin receptor (sTfR) levels in 22 patients with polycythemia vera and in 26 cases of secondary polycythemia. In our study, raised sTfR levels in both polycythemia groups were related to iron deficiency.
Adult↗