Iron Deficiency in Menstruating Adult Women: Much More than Anemia.

Background: Iron deficiency anemia (IDA) is highly prevalent in women of child-bearing age. However, their nonhematological symptoms have been overlooked. This study aims to analyze the nonhematological features and symptoms of IDA in a group of women of reproductive age and the changes occurred during iron therapy. Materials and Methods: IDA women underwent dietary, physical activity, menstrual blood loss, and cognitive function assessment at baseline. Hematological and biochemical parameters were analyzed. Executive attention was tested by the flanker task and working memory by the 2-back task. Oral iron therapy (ferrous sulfate) was given to 35 women for 8 weeks and the changes in iron status, biochemical markers, cognitive function, and nonhematological symptoms were evaluated. Results: Patients presented nonhematological symptoms: pica, 32.4%; cheilitis, 20.6%; restless legs syndrome (RLS), 20.6%; diffuse hair loss, 55.9%; and ungual alterations, 38.2%. Two or more symptoms were present in 58.8% of women. Serum iron and working memory were correlated at baseline. Multivariate analyses show associations (odds ratio [OR], 95% confidence interval [CI]) between pica and reaction time in the working memory test (OR 2.14, 95% CI 1.19-3.87, p = 0.012); RLS with total serum protein (OR 0.08, 95% CI 0.06-0.92, p = 0.043); and cheilitis with mean corpuscular hemoglobin (OR 0.388, 95% CI 0.189-0.799, p = 0.01). Pica, cheilitis, and RLS completely resolved with iron therapy, and ungual alterations and hair loss improved in 92.3% and 84.2% of women, respectively. Better performance in executive attention and working memory was observed after iron therapy. Conclusions: More attention should be given to the nonhematological manifestations of IDA to improve the quality of life of menstruating women.

Evolution of iron overload in patients with low-risk myelodysplastic syndrome: iron chelation therapy and organ complications.

This study aimed to evaluate the evolution of iron overload, assessed by serum ferritin (SF), in transfusion-dependent lower risk patients with myelodysplastic syndrome (MDS), as well as to describe the occurrence of organ complications, and to analyze its relationship with iron chelation therapy. This observational retrospective study was conducted from March 2010 to March 2011 in 47 Spanish hospitals. A total of 263 patients with lower risk MDS (International Prognostic Scoring System [IPSS] low/intermediate-1 risk or Spanish Prognostic Index [SPI] 0-1 risk), transfusion-dependent, and who had received ≥10 packed red blood cells (PRBC) were included. At MDS diagnosis, patients received a mean of 2.8 ± 3.9 PRBC/month, and 8.7% of patients showed SF ≥1000 µg/L. Over the course of the disease, patients received a mean of 83.4 ± 83.3 PRBC, and 36.1% of patients presented SF ≥2500 µg/L. Cardiac, hepatic, endocrine, or arthropathy complications appeared/worsened in 20.2, 11.4, 9.9, and 3.8% of patients, respectively. According to investigator, iron overload was a main cause of hepatic (70.0%) and endocrine (26.9%) complications. A total of 96 (36.5%) patients received iron chelation therapy for ≥6 months, being deferasirox the most frequent first chelation treatment (71.9%). Chelation-treated patients showed longer overall survival (p < 0.001), leukemia-free survival (p = 0.007), and cardiac event-free survival (p = 0.017) than non-chelated patients. In multivariable analyses, age (p = 0.011), IPSS (p < 0.001), and chelation treatment (p = 0.015) were predictors for overall survival; IPSS (p = 0.014) and transfusion frequency (p = 0.001) for leukemia-free survival; and chelation treatment (p = 0.040) and Sorror comorbidity index (p = 0.039) for cardiac event-free survival. In conclusion, these results confirm the potential survival benefit of iron chelation therapy and provide additional evidence on the deleterious effect of iron overload in lower risk MDS patients.

Bone remodelling is reduced by recovery from iron-deficiency anaemia in premenopausal women

Iron-deficiency anaemia (IDA), one of the most common and widespread health disorders worldwide, affects fundamental metabolic functions and has been associated with deleterious effects on bone. Our aim was to know whether there are differences in bone remodelling between a group of premenopausal IDA women and a healthy group, and whether recovery of iron status has an effect on bone turnover markers. Thirty-five IDA women and 38 healthy women (control group) were recruited throughout the year. IDA women received pharmacological iron treatment. Iron biomarkers, aminoterminal telopeptide of collagen I (NTx), procollagen type 1 N-terminal propeptide (P1NP), 25-hydroxyvitamin D, and parathormone (PTH) were determined at baseline for both groups and after treatment with pharmacological iron for the IDA group. IDA subjects were classified as recovered (R) or non-recovered (nR) from IDA after treatment. NTx levels were significantly higher (p <0.001), and P1NP levels tended to be lower in IDA women than controls after adjusting for age and body mass index (BMI), with no differences in 25-hydroxyvitamin D or PTH. After treatment, the R group had significantly lower NTx and P1NP levels compared to baseline (p <0.05 and p <0.001 respectively), whilst no significant changes were seen in the nR group. No changes were seen in 25-hydroxyvitamin D or PTH for either group. IDA is related to higher bone resorption independent of age and BMI. Recovery from IDA has a concomitant beneficial effect on bone remodelling in premenopausal women, decreasing both bone resorption and formation (AU)

Bone remodelling is reduced by recovery from iron-deficiency anaemia in premenopausal women.

Iron-deficiency anaemia (IDA), one of the most common and widespread health disorders worldwide, affects fundamental metabolic functions and has been associated with deleterious effects on bone. Our aim was to know whether there are differences in bone remodelling between a group of premenopausal IDA women and a healthy group, and whether recovery of iron status has an effect on bone turnover markers. Thirty-five IDA women and 38 healthy women (control group) were recruited throughout the year. IDA women received pharmacological iron treatment. Iron biomarkers, aminoterminal telopeptide of collagen I (NTx), procollagen type 1 N-terminal propeptide (P1NP), 25-hydroxyvitamin D, and parathormone (PTH) were determined at baseline for both groups and after treatment with pharmacological iron for the IDA group. IDA subjects were classified as recovered (R) or non-recovered (nR) from IDA after treatment. NTx levels were significantly higher (p <0.001), and P1NP levels tended to be lower in IDA women than controls after adjusting for age and body mass index (BMI), with no differences in 25-hydroxyvitamin D or PTH. After treatment, the R group had significantly lower NTx and P1NP levels compared to baseline (p <0.05 and p <0.001 respectively), whilst no significant changes were seen in the nR group. No changes were seen in 25-hydroxyvitamin D or PTH for either group. IDA is related to higher bone resorption independent of age and BMI. Recovery from IDA has a concomitant beneficial effect on bone remodelling in premenopausal women, decreasing both bone resorption and formation.

Combined cobalamin and iron deficiency anemia: a diagnostic approach using a model based on age and homocysteine assessment.

Macrocytosis, the hallmark of cobalamin/folate deficiency anemia, is frequently absent. Clinicians have to be aware of coexisting conditions that can mask the macrocytosis expression of megaloblastic anemia, especially iron deficiency. The objective of this work was to investigate the degree of overlap between iron deficiency anemia (IDA) and cobalamin deficiency and to develop a predictive model for differentiating IDA from combined deficiency. A prospective case and control study was carried out to investigate vitamin B12 and folate status in iron deficiency anemia. A total of 658 patients were recruited, 41 of whom (6.2 %) were excluded. The remaining 617 subjects consisted of 130 controls and 487 with IDA. Low vitamin B12 (LB12) was considered when serum vitamin B12 was ≤200 pmol/L. High serum homocysteine (Hcy) was defined by Hcy >17 µM/L. A multivariate analysis (including a logistic regression) was performed to develop a diagnostic model. Low vitamin B12 levels were found in 17.8 % of IDA subjects. Ten out of 11 subjects (91 %) with IDA and serum vitamin B12 (B12) ≤100 pmol/L showed vitamin B12 deficiency. Moreover, vitamin B12 deficiency was demonstrated in 48 % of cases with IDA and B12 between 101 and 150 pmol/L and in 40 % with IDA and B12 between 151 and 200 pmol/, respectively. As a result of multivariate logistic analysis, neutrophil counts and age predicted subjects with vitamin B12 ≤200 and Hcy >17 µmol/L, [Formula: see text]. Using the age of 60 as a cutoff, sensitivity was 91 % (39 out of the 43 patients with vitamin B12 deficiency and IDA were identified). In summary, low vitamin B12 was found in 18 % of patients with IDA. Vitamin B12 deficiency was demonstrated in many patients with LB12 and IDA. Age over 60 years was used to separate patients with combined deficiency (sensitivity 91 %). Therefore, for a diagnostic purpose, serum vitamin B12 should be evaluated in IDA patients over 60 years. This diagnostic model needs to be validated in a different population.

Vitamin B12 deficiency, hyperhomocysteinemia and thrombosis: a case and control study.

This study aimed at assessing the relationship between thrombosis, hyperhomocysteinemia and vitamin B12 deficiency using a case-control study carried out in 326 patients with thrombosis (case group) and 351 patients from the same hospital (control group). Apart from the classic risk factors, a number of hematological variables were evaluated, including serum vitamin B12 (B12), red cell folate (RCF), and serum homocysteine (Hcy). An evaluation of serum methylmalonic acid (MMA) and a clinical study were carried out to investigate B12 pathology. Results of univariate analysis demonstrated decreased B12 levels in thrombosis (Student's t test, p < 0.0001). Vitamin B12 below 200 pmol/l (LB200) or below 150 pmol/l (LB150), and red cell folate below 600 nmol/l were found in 17.2, 8.6, and 2.2% of cases with thromboembolism, respectively. An increase in Hcy was detected in 86 cases with thrombosis (26.3%). An abnormality in vitamin B12 and/or renal function was found in 80% of cases with hyperHcy and thrombosis. The MMA increase demonstrated that vitamin B12 deficiency was present in these patients with low levels of vitamin B12 in serum, and the MMA levels were in concordance with Hcy levels. The clinical study revealed B12 malabsorption in most cases with LB200. Multivariate analysis showed that serum vitamin B12 (RR 0.998, CI 0.997-0.999) was moderately related to thromboembolism. The results indicated that vitamin B12 deficiency was common among patients with hyperhomocysteinemia and thrombosis. Moreover, HyperHcy was caused by vitamin B12 deficiency and/or chronic renal failure in most patients with thrombosis. As the main cause of vitamin B12 deficiency was vitamin malabsorption, parenteral vitamin B12 with or without folic acid should be administered for the treatment of this condition. However, it remains to be demonstrated whether this treatment approach prevents recurrent thromboses in patients with vitamin B12 deficiency and thrombosis, as suggested by some case reports.

Iron overload and chelation therapy in patients with low-risk myelodysplastic syndromes with transfusion requirements.

The main objective of the study was to analyze the incidence of iron overload (IO) and its management in transfusion-dependent patients with low-risk myelodysplastic syndrome (MDS) before the license of deferasirox. This observational, cross-sectional, and multicenter study was conducted from January to May 2007 in 81 Spanish hospitals. Eligible patients had a low or intermediate-1 risk score and had to have received at least ten units of packed red blood cell (PRBC). Of the 549 patients analyzed, 75% had received more than 20 PRBC units since diagnosis; 14% had IO at diagnosis and 58% at last follow-up. Thirty-eight percent of patients received chelation therapy; of those, 92% were treated with desferrioxamine. Ferritin levels at the start of chelation therapy were higher than 1,000 microg/L in 76% and over 2,500 microg/L in 24% of patients. Of the 202 patients who received some form of chelation therapy, ferritin levels increased from a mean +/- SD of 1,986 +/- 1,398 to 2,480 +/- 1,648 microg/L at last follow-up in 86% (p < 0.001). In the remaining 29 patients treated with a minimally effective therapy, ferritin levels did not increase. Of these, only 11 patients received such therapy lasting more than 12 months. In conclusion, most low-risk transfusion-dependent MDS patients develop IO, but only a minority receives a minimally effective and timely iron chelation therapy.

Mutations in HAMP and HJV genes and their impact on expression of clinical hemochromatosis in a cohort of 100 Spanish patients homozygous for the C282Y mutation of HFE gene.

Most hereditary hemochromatosis (HH) patients are homozygous for the C282Y mutation of the HFE gene. Nevertheless, penetrance of the disease is very variable. In some patients, penetrance can be mediated by concomitant mutations in other iron master genes. We evaluated the clinical impact of hepcidin (HAMP) and hemojuvelin mutations in a cohort of 100 Spanish patients homozygous for the C282Y mutation of the HFE gene. HAMP and hemojuvelin mutations were evaluated in all patients by bidirectional direct cycle sequencing. Phenotype-genotype interactions were evaluated. A heterozygous mutation of the HAMP gene (G71D) was found in only one out of 100 cases. Following, we performed a study of several members of that family, and we observed several members had a digenic inheritance of the C282Y mutation of the HFE gene and the G71D mutation of the HAMP gene. This mutation in the HAMP gene did not modify the phenotype of the individuals who were homozygous for the C282Y mutation. One other patient presented a new polymorphism in the hemojuvelin gene, without consequences in iron load or clinical course of the disease. In conclusion, HAMP and hemojuvelin mutations are rare among Spanish HH patients, and their impact in this population is not significant.

Does the SLC40A1 gene modify HFE-related haemochromatosis phenotypes?

Most hereditary haemochromatosis patients are homozygous for the C282Y mutation of the HFE gene. However, the phenotypic expression and clinical aggressiveness of the disease differs considerably from patient to patient. The main objective of this work was to study the role of variants in the SLC40A1 gene in the severity of iron overload and his clinical consequences in 100 Spanish probands homozygous for the C282Y mutation of the HFE gene. We performed automated sequencing of the coding regions, including intron-exon junctions of the SLC40A1 gene. We studied the association between polymorphisms in the SLC40A1 gene and median values of iron removed, taking into account statistical corrections for multiple comparisons. No pathogenic mutations in the SLC40A1 were detected. Five known single nucleotide polymorphisms (SNPs) were identified, and two of them were associated with phenotypic characteristics. IVS1-24 C>G was associated with the amount of iron removed and presence of liver disease: Of the 83 patients finally studied for this SNP, the amount of iron removed was above the median in 36 of 56 (64.3%) for C/C, in nine of 23(39.1%) for C/G and in zero of four (0%) for G/G patients (P=0.01). Liver damage was observed in 34 of 56 patients (60.7%) for C/C, in eight of 23 (34.8%) for C/G and in zero of four (0%) for G/G (P=0.01). Both associations remained significant at multivariate analysis (P=0.011 and P=0.023, respectively). IVS1-24 C>G on the ferroportin gene seems to be a genetic modifier for clinical aggressiveness of HFE1 haemochromatosis.

Intermittent hypoxia exposure in a hypobaric chamber and erythropoietin abuse interpretation.

The aim of this study was to assess the effect of intermittent hypoxia exposure on direct and indirect methods used to evaluate recombinant human erythropoietin (rhEPO) misuse. Sixteen male triathletes were randomly assigned to either the intermittent hypoxia exposure group (experimental group) or the control normoxic group (control group). The members of the experimental group were exposed to simulated altitude (from 4000 to 5500 m) in a hypobaric chamber for 3 h per day, 5 days a week, for 4 weeks. Blood and urine samples were collected before and after the first and the final exposures, and again 2 weeks after the final exposure. While serum EPO significantly increased after the first [from a mean 8.3 IU x l(-1) (s = 3.2) to 16.6 IU x l(-1) (s = 4.7)] and final exposures [from 4.6 IU x l(-1) (s = 1.4) to 24.8 IU x l(-1) (s = 9.3)], haemoglobin, percentage of reticulocytes, and soluble transferrin receptor were not elevated. Second-generation ON/OFF models (indirect rhEPO misuse detection) were insensitive to intermittent hypoxia exposure. The distribution of the urinary EPO isoelectric profiles (direct rhEPO misuse detection) was altered after intermittent hypoxia exposure with a slight shift towards more basic isoforms. However, those shifts never resulted in misinterpretation of results. The intermittent hypoxia exposure protocol studied did not produce any false-positive result for indirect or direct detection of rhEPO misuse in spite of the changes in EPO serum concentrations and urinary EPO isoelectric profiles, respectively.

The V617F mutation of JAK2 is very uncommon in patients with thrombosis.

Given that many cases of thrombosis do not have a clear cause, a myeloproliferative disease could be involved. We investigated the V617F mutation of the JAK2 gene in 295 patients with thrombosis. Only one case was positive. Therefore, the study of this mutation is not necessary in all patients with idiopathic thrombosis.

[Evaluation of V617F mutation of JAK2 in negative chromosome Philadelphia chronic myeloproliferative disorders]. / Valoración de la mutación V617F del gen JAK2 en síndromes mieloproliferativos crónicos con cromosoma Filadelfia negativo.

BACKGROUND AND OBJECTIVE: Polycythemia vera (PV) and essential thrombocytemia (ET) are chronic myeloproliferative diseases (MPD) characterized by overactive hemopoiesis. A single point mutation of JAK2 (Val617Phe) has been detected in PV, ET and myelofibrosis (MF). The aim of this work was to investigate the JAK2 mutation in patients with MPD and to compare the results to those of the endogenous formation of BFU-E erythroid colonies (EEC). Finally, different sources of hematopoietic cells to obtain DNA were evaluated. PATIENTS AND METHOD: In this work 146 patents were studied (81 MPD: 27 PV, 28 ET, 11 MF and 15 with myeloid chronic leukemia). Moreover, 28 patients showed secondary polycythemias or reactive thrombocytosis, 8 MPD/myelodysplastic syndromes and 29 other disorders. In 54 patients, EEC were also evaluated. Peripheral blood cells were used as source of DNA in 122 patients, bone marrow in 33, cells from BFU-E in 14 and cells from EEC in 24 patients. Their DNA samples were analyzed using an allele-specific polimerase chain reaction methodology. RESULTS: The JAK2 mutation was present in 96% of PV patients, 59% of ET and 63.6% of MF. None of the remaining patients showed this mutation. Diagnostic agreement was excellent between EEC and the mutation (kappa index = 0.93; 97% positive agreement and 95% negative agreement). DNA was obtained in 119 out of 122 samples from peripheral blood, in all patients with bone marrow, and in 50% of patients with BFU-E or EEC. In 7 cases, samples from different cell sources were studied. Their results were identical. CONCLUSIONS: The V617F mutation of JAK2 is present in most of PV patients and half of those with MF or ET. There is an excellent concordance with the EEC results.

Valoración de la mutación V617F del gen JAK2 en síndromes mieloproliferativos crónicos con cromosoma Filadelfia negativo / Evaluation of V617F mutation of JAK2 in negative chromosome Philadelphia chronic myeloproliferative disorders

Fundamento y objetivo: La mutación V617F en el gen de la tirosincinasa JAK2 está implicada en la génesis de algunos síndromes mieloproliferativos crónicos (SMP) como la policitemia vera (PV), la trombocitemia esencial (TE) y la mielofibrosis (MF) idiopática. Se ha valorado el papel diagnóstico de esta mutación en los SMP y se ha comparado con la formación espontánea de colonias eritroides (BFU-E-ESP). Pacientes y método: Se incluyó a 146 pacientes, de los que 81 presentaban SMP (27 PV, 28 TE, 11 MF y 15 leucemia mieloide crónica), 28 con eritrocitosis secundaria o trombocitosis reactiva, 8 SMP/síndromes mielodisplásicos y 29 con otras hemopatías. En 54 casos se valoró también la BFU-E-ESP. La fuente de las células hemopoyéticas para obtener ADN fue la sangre periférica en 122 pacientes, la médula ósea en 33, las unidades formadoras de colonias eritroides con estimulación con eritropoyetina en 14 y las BFU-E-ESP en 24. La mutación V617F se efectuó usando una reacción en cadena de la polimerasa específica de alelo. Resultados: El 96% de las PV, el 59% de las TE y el 63,6% de las MF presentaron dicha mutación. La concordancia diagnóstica entre BFU-E-ESP y la mutación fue excelente (índice kappa = 0,93; acuerdo en lo positivo del 97% y acuerdo en lo negativo del 95%). Se pudo valorar la mutación en 119 de los 122 pacientes en que se usó sangre periférica, en los 33 en que se usó médula ósea y en la mitad de aquellos en que se utilizaron las colonias eritroides como fuentes de ADN. Conclusiones: La mutación V617F del gen JAK2 está presente en casi todas las PV y en la mitad de las TE y de las MF. Hay una excelente concordancia entre la presencia de esta mutación y BFU-E-ESP. Finalmente, se puede usar diferentes fuentes celulares en la obtención de ADN para el estudio de esta mutación

Background and objective: Polycythemia vera (PV) and essential thrombocytemia (ET) are chronic myeloproliferative diseases (MPD) characterized by overactive hemopoiesis. A single point mutation of JAK2 (Val617Phe) has been detected in PV, ET and myelofibrosis (MF). The aim of this work was to investigate the JAK2 mutation in patients with MPD and to compare the results to those of the endogenous formation of BFU-E erythroid colonies (EEC). Finally, different sources of hematopoietic cells to obtain DNA were evaluated. Patients and method: In this work 146 patents were studied (81 MPD: 27 PV, 28 ET, 11 MF and 15 with myeloid chronic leukemia). Moreover, 28 patients showed secondary polycythemias or reactive thrombocytosis, 8 MPD/myelodysplastic syndromes and 29 other disorders. In 54 patients, EEC were also evaluated. Peripheral blood cells were used as source of DNA in 122 patients, bone marrow in 33, cells from BFU-E in 14 and cells from EEC in 24 patients. Their DNA samples were analyzed using an allele-specific polimerase chain reaction methodology. Results: The JAK2 mutation was present in 96% of PV patients, 59% of ET and 63.6% of MF. None of the remaining patients showed this mutation. Diagnostic agreement was excellent between EEC and the mutation (kappa index = 0.93; 97% positive agreement and 95% negative agreement). DNA was obtained in 119 out of 122 samples from peripheral blood, in all patients with bone marrow, and in 50% of patients with BFU-E or EEC. In 7 cases, samples from different cell sources were studied. Their results were identical. Conclusions: The V617F mutation of JAK2 is present in most of PV patients and half of those with MF or ET. There is an excellent concordance with the EEC results

[Treatment of type 1 hereditary haemochromatosis with oral magnesium]. / Tratamiento de la hemocromatosis hereditaria tipo 1 con magnesio oral.

BACKGROUND AND OBJECTIVE: An essential step in the pathogenesis of hereditary hemochromatosis seems to be the increased expression of a duodenal divalent cation transporter (DMT1) responsible for absorption of non-heminic iron2+. The objective of the present study was to ascertain whether the competitive blockade of DMT1 by the administration of high doses of oral Mg2+ reduces iron absorption in patients homozygous for the C282Y mutation. PATIENTS AND METHOD: Iron absorption was evaluated by a low dose iron absorption test in 15 patients before and after treatment with oral magnesium (809.6 mg every 8 hours) for two weeks. RESULTS: We did not observe secondary effects or significant differences in iron absorption before or after magnesium treatment (14.7 micromol/L; 95% confidence interval [CI], 9.8-19.6 vs 14.9 micromol/L; 95% CI, 8.5-21.4, P = 0.7). CONCLUSIONS: Treatment with oral magnesium does not reduce iron absorption in homozygous C282Y patients. This treatment can not be used in these subjects.

Occurrence of the JAK2 V617F mutation in the WHO provisional entity: myelodysplastic/myeloproliferative disease, unclassifiable-refractory anemia with ringed sideroblasts associated with marked thrombocytosis.

The JAK2/V617F mutation has been noted in essential thrombocytemia. We investigated 19 cases with refractory anemia with ringed sideroblasts (RARS), including three RARS with thrombocytosis (RARS-T). Only the RARS-T patients showed this mutation. More cases need to be analyzed to determine the prevalence of the JAK2/V617F mutation in RARS-T.

Tratamiento de la hemocromatosis hereditaria tipo 1 con magnesio oral / Treatment of type 1 hereditary haemochromatosis with oral magnesium

Fundamento y objetivo: Parece que un eslabón en la patogenia de la hemocromatosis hereditaria tipo 1 es la sobreexpresión de un transportador de cationes divalentes duodenal (DMT1) causante de la absorción del hierro2+ no hemínico. El objetivo del presente estudio ha sido valorar si el bloqueo competitivo de DMT1 mediante la administración de dosis altas de magnesio2+ por vía oral reduce la absorción de hierro en pacientes homocigotos para la mutación C282Y. Pacientes y método: Mediante un ensayo clínico cruzado se investigó la absorción de hierro mediante el test de absorción de bajas dosis de hierro en un grupo de 15 pacientes antes y después de ingerir durante 2 semanas una dosis de magnesio de 809,6 mg cada 8 h. Resultados: No se observaron efectos secundarios ni diferencias estadísticamente significativas entre la absorción de hierro antes y después del tratamiento experimental (14,7 µmol/l, intervalo de confianza [IC] del 95%, 9,8-19,6, frente a 14,9 µmol/l, IC del 95%, 8,5-21,4; p = 0,7). Conclusiones: El tratamiento con magnesio oral no reduce la absorción de hierro en los pacientes homocigotos C282Y. Dicho tratamiento no puede ser una alternativa terapéutica a las flebotomías

Background and objective: An essential step in the pathogenesis of hereditary hemochromatosis seems to be the increased expression of a duodenal divalent cation transporter (DMT1) responsible for absorption of non-heminic iron2+. The objective of the present study was to ascertain whether the competitive blockade of DMT1 by the administration of high doses of oral Mg2+ reduces iron absorption in patients homozygous for the C282Y mutation. Patients and method: Iron absorption was evaluated by a low dose iron absorption test in 15 patients before and after treatment with oral magnesium (809.6 mg every 8 hours) for two weeks. Results: We did not observe secondary effects or significant differences in iron absorption before or after magnesium treatment (14.7 µmol/L; 95% confidence interval [CI], 9.8-19.6 vs 14.9 µmol/L; 95% CI, 8.5-21.4, P = 0.7). Conclusions: Treatment with oral magnesium does not reduce iron absorption in homozygous C282Y patients. This treatment can not be used in these subjects