Disorders of iron metabolism. Part II: iron deficiency and iron overload.

MAIN DISORDERS OF IRON METABOLISM: Increased iron requirements, limited external supply, and increased blood loss may lead to iron deficiency (ID) and iron deficiency anaemia. In chronic inflammation, the excess of hepcidin decreases iron absorption and prevents iron recycling, resulting in hypoferraemia and iron restricted erythropoiesis, despite normal iron stores (functional iron deficiency), and finally anaemia of chronic disease (ACD), which can evolve to ACD plus true ID (ACD+ID). In contrast, low hepcidin expression may lead to hereditary haemochromatosis (HH type I, mutations of the HFE gene) and type II (mutations of the hemojuvelin and hepcidin genes).

Disorders of iron metabolism. Part 1: molecular basis of iron homoeostasis.

IRON FUNCTIONS: Iron is an essential micronutrient, as it is required for satisfactory erythropoietic function, oxidative metabolism and cellular immune response. IRON PHYSIOLOGY: Absorption of dietary iron (1-2 mg/day) is tightly regulated and just balanced against iron loss because there are no active iron excretory mechanisms. Dietary iron is found in haem (10%) and non-haem (ionic, 90%) forms, and their absorption occurs at the apical surface of duodenal enterocytes via different mechanisms.

The relationship between iron overload and clinical characteristics in a Spanish cohort of 100 C282Y homozygous hemochromatosis patients.

We studied the relationship between iron removed by venesection, sex, age, and clinical characteristics in a group of 100 Spanish probands with hereditary hemochromatosis (HH), all C282Y homozygous in the HFE gene. Iron overload was higher in men than in women (P < 0.0001) and increased with age (P = 0.

Early clinical impact of iron overload in stem cell transplantation. A prospective study.

Toxic-infectious complications may be related with iron toxicity after a stem cell transplant (SCT). Eighty one patients who underwent SCT were prospectively evaluated over 3 months for mucositis, bacteraemia and febrile days. Pre-SCT transferrin saturation (TS), ferritin level and the number of days with TS >or= 80% after transplant were determined.

The relationship between transferrin saturation and erythropoiesis during stem cell transplantation.

Ninety-seven percent of 81 patients had a transferrin saturation (TS) level >80% from day 0 of their stem cell transplant. This phenomenon was inversely related with reticulocyte count changes (p<0.0001).

Prevalence of the C282Y, H63D, and S65C mutations of the HFE gene in 1,146 newborns from a region of Northern Spain.

In Spain, 85% of patients with genetic hemochromatosis (GH) are homozygous for the C282Y mutation of the HFE gene. H63D and S65C mutations of HFE may also play some role in the disease. The aim of this study was to establish the prevalence of C282Y, H63D, and S65C mutations of the HFE gene in newborns in Catalonia, Spain.

Evaluation of immunoassays for the measurement of erythropoietin (EPO) as an indirect biomarker of recombinant human EPO misuse in sport.

The measurement of serum erythropoietin (EPO) has been proposed as one of the indirect biomarkers for the detection of recombinant human EPO misuse in sport. An extended inter-laboratory validation of two commercial immunoassays for EPO measurement is described. A chemiluminescent immunoassay kit (CHEM) and an enzyme-linked immunosorbent assay kit (ELISA) were evaluated.