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Serum Ferritin Levels (serum + ferritin_level)

Distribution by Scientific Domains

Medical Sciences	100%

Distribution within Medical Sciences

Hematology	25%
Oncology & Radiotherapy	11%

Selected Abstracts

Red blood cell transfusion need at diagnosis adversely affects survival in primary myelofibrosis,increased serum ferritin or transfusion load does not,

AMERICAN JOURNAL OF HEMATOLOGY, Issue 5 2009
Ayalew Tefferi
Serum ferritin level at diagnosis was available in 185 patients with primary myelofibrosis (PMF); twenty-two (12%) patients had serum ferritin >1,000 ng/mL and 32 (17%) were red blood cell (RBC) transfusion-dependent. As expected, RBC transfusion need and increased serum ferritin displayed strong correlation (P < 0.0001); in addition, the latter but not the former correlated with advanced age (P < 0.0001). During median follow-up of 28 months (range 0.5,231), peak serum ferritin levels exceeded 1,000 ng/mL in 41 (22%) patients. On multivariable analysis that included age as a covariate, RBC transfusion need at diagnosis (P < 0.0001), but not increased serum ferritin or transfusion load, predicted shortened survival. The prognostic relevance of RBC transfusion need was independent of the International Prognostic Scoring System and was also illustrated for leukemia-free survival (P = 0.003). In PMF, the presence of a more severe erythropoietic defect, and not iron overload, has additional adverse prognostic value. Am. J. Hematol., 2009. © 2009 Wiley-Liss, Inc. [source]

Granulocyte function in patients with L-ferritin iron-responsive element (IRE) 39C,T-positive hereditary hyperferritinaemia,cataract syndrome

EUROPEAN JOURNAL OF CLINICAL INVESTIGATION, Issue 10 2004
R. Fritsche-Polanz
Abstract Background, Hereditary hyperferritinaemia,cataract syndrome (HHCS) is an autosomal dominant trait associated with mutations in the iron responsive element (IRE) of the ferritin light-chain (L-ferritin) gene. Patients typically show elevated serum ferritin concentrations without iron overload and a bilateral cataract. Hyperferritinaemia can be associated with granulocyte dysfunction in patients with thalassemia beta and in haemodialysis patients. The effect of increased L-ferritin levels on granulocyte function in patients with HHCS is unknown. Material and methods, We examined glucose uptake, oxidative burst, chemotaxis, phagocytosis, apoptosis and intracellular calcium concentrations in polymorphonuclear leucocytes (PMNLs) of five affected members of a family with HHCS and in five healthy individuals matched for age and gender. Results, Mutation testing revealed a 39C,T transition in IRE in all five patients with HHCS. Serum ferritin levels of patients ranged between 907 and 2030 µg L,1, respectively. In comparison with healthy individuals, PMNLs of patients with HHCS showed a significant increase in PMA-mediated stimulation of the oxidative burst, as well as a significantly higher stimulation of glucose uptake but no difference with respect to chemotaxis, phagocytosis, apoptosis and intracellular calcium concentrations. Conclusion, In summary, our study suggests that hyperferritinaemia in patients with IRE 39C,T-positive HHCS is associated with activation of PMNLs but not with disturbance of fundamental PMNL function. [source]

Serum thioredoxin elucidates the significance of serum ferritin as a marker of oxidative stress in chronic liver diseases

LIVER INTERNATIONAL, Issue 5 2001
Yoshio Sumida
Abstract:Background/Aims: Serum thioredoxin (TRX) levels have recently been established as an indicator of oxidative stress in various diseases. The aim of the present study was to clarify the clinical significance of serum ferritin in chronic liver diseases. Methods: Levels of ferritin, transferrin saturation (TS), aspartate aminotransferase (AST), and TRX were measured in the sera of patients with chronic hepatitis C (CH-C, n=92), chronic hepatitis B (CH-B, n=28), nonalcoholic fatty liver (FL, n=31), or alcoholic liver diseases (ALD, n=17). Serum TRX levels were evaluated with a recently established sandwich enzyme-linked immunosorbent assay kit. Results: Serum TRX levels were significantly higher in CH-C, FL, and ALD than in healthy volunteers. A larger proportion of patients with CH-C, FL, and ALD had elevated levels of serum ferritin than CH-B. Serum ferritin levels were positively correlated with levels of TS, AST, and TRX in CH-C, but were merely correlated with TS values in CH-B. Ferritin levels were also well correlated with AST and TRX, but not with TS in FL and ALD. Conclusion: Oxidative stress, which was evaluated by measuring serum TRX, in addition to storage iron and hepatocyte damage is a cause of increasing serum ferritin levels in chronic liver diseases. An elevated serum ferritin level, which was correlated with TS, indicates that iron-induced oxidative stress contributes to CH-C. Elevated ferritin levels in FL and ALD may be mostly due to iron-unrelated stresses. [source]

Liver biopsy results in patients with sickle cell disease on chronic transfusions: Poor correlation with ferritin levels

PEDIATRIC BLOOD & CANCER, Issue 1 2008
Lina B. Karam MD
Abstract Background: Chronic transfusions are effective in preventing stroke and other complications of sickle cell disease. The aim of this study was to determine whether serum ferritin levels correlated with liver iron content in sickle cell patients on chronic transfusion. Procedure: Forty-four liver biopsy specimens from 38 patients with homozygous sickle cell anemia (HbSS) and one patient with sickle thalassemia receiving chronic transfusions were studied. Five patients underwent a second liver biopsy for follow up. Three ferritin measurements were used to calculate a mean for each patient. The association between serum ferritin levels and liver iron quantitation was measured using the Spearman rank correlation, and sensitivity and specificity were determined for selected threshold values of serum ferritin. Results: Serum ferritin levels ranged from 515 to 6076 ng/ml, liver iron concentration ranged from 1.8 to 67.97 mg/g dry weight. The amount of iron per gram liver dry weight was moderately correlated with serum ferritin values (r,=,0.46). The correlation of duration of transfusion with serum ferritin (r,=,0.40) and with liver iron content (r,=,0.41) also indicated moderate correlation. Liver biopsy results led to changes in the management after 29/44 (66%) of the biopsies. Serum ferritin ,2500 ng/ml predicted high liver iron content (,7 mg/g), with a sensitivity of 62.5% and a specificity of 77.8%. Conclusion: We found a poor correlation between serum ferritin levels and liver iron content (LIC). Despite being on chelation therapy, many patients on chronic transfusion had high levels of liver iron. Measurement of LIC is highly recommended in these patients. Pediatr Blood Cancer 2008;50:62,65. © 2007 Wiley-Liss, Inc. [source]

The long-term impact of ferritin level on treatment and complications of type 2 diabetes

DIABETES OBESITY & METABOLISM, Issue 6 2008
L. Jiang
Aim:, To investigate if high-serum ferritin has long-term impact on response to treatment and the development of diabetic complications in patients with type 2 diabetes. Research design and methods:, We analysed the record of 90 consecutive type 2 diabetic subjects who had serum ferritin level determined soon after diagnosis of diabetes and who also had long-term follow-up data. Results:, Patients with higher serum ferritin level had slightly worse triglyceride, blood pressure and liver enzyme levels at the end of follow up. However, ferritin level had no impact on the initial or final requirements for diabetic medication and the development of diabetic complications. Conclusions:, Although elevated serum ferritin is a marker of insulin resistance and chronic inflammation, it is not necessarily a bad prognostic indicator that should affect the clinician's approach to management. [source]

Combined therapy of silymarin and desferrioxamine in patients with ,-thalassemia major: a randomized double-blind clinical trial

FUNDAMENTAL & CLINICAL PHARMACOLOGY, Issue 3 2009
Marjan Gharagozloo
Abstract Silymarin, a flavonolignan complex isolated from Silybum marianum, has a strong antioxidant, hepatoprotective, and iron chelating activities. The present study was designed to investigate the therapeutic activity of orally administered silymarin in patients with thalassemia major under conventional iron chelation therapy. A 3-month randomized, double-blind, clinical trial was conducted in 59 ,-thalassemia major patients in two well-matched groups. Patients were randomized to receive a silymarin tablet (140 mg) three times a day plus conventional desferrioxamine therapy. The second group received the same therapy but a placebo tablet instead of silymarin. Clinical laboratory tests were assessed at the beginning and the end of the trial, except for serum ferritin level that was assessed at the middle of the trial as well. Results of this study revealed that the combined therapy was well tolerated and more effective than desferrioxamine in reducing serum ferritin level. Significant improvement in liver alkaline phosphatase and glutathione levels of red blood cells was also observed in silymarin-treated ,-thalassemia patients. However, no significant difference in serum ferritin levels was detected between silymarin and placebo groups after 1.5 and 3 months treatment, probably because of insufficient sample size to detect subtle changes in ferritin levels between groups. This is the first report showing the beneficial effects of silymarin in thalassemia patients and suggests that silymarin in combination with desferrioxamine can be safely and effectively used in the treatment of iron-loaded patients. [source]

Useful parameters for distinguishing nonalcoholic steatohepatitis with mild steatosis from cryptogenic chronic hepatitis in the Japanese population

LIVER INTERNATIONAL, Issue 8 2006
Naoki Tanaka
Abstract: Background/Aims: As detecting mild steatosis is difficult by abdominal ultrasonography (US), nonalcoholic steatohepatitis (NASH) with mild steatosis may sometimes be confused with cryptogenic chronic hepatitis. We aimed to test this possibility and to isolate factors that may indicate NASH. Methods: First, 53 Japanese patients diagnosed as having cryptogenic chronic hepatitis by laboratory examination and US were enrolled. These patients were histologically divided into NASH and non-NASH groups, and their clinical features were compared. Second, the diagnostic accuracy of predictors of NASH was examined prospectively. Results: Fifteen patients (28%) were histologically diagnosed as having NASH with mild steatosis. Multivariable analysis revealed that body mass index (BMI) and serum ferritin level were independent predictors of NASH. The best cutoff values to detect NASH were assessed by using receiver-operating characteristic curves: BMI>25.2 kg/m2 and serum ferritin level >142 ng/ml. When both markers were concomitantly negative, the negative predictive value to detect NASH was 100%. Conclusions: In cases of mild steatosis, US is not a perfect tool for the accurate diagnosis of NASH. BMI and serum ferritin level are useful discriminators of NASH from cryptogenic chronic hepatitis, and might be helpful markers for diagnosing NASH more accurately in Japanese patients. [source]

Insulin resistance/,-cell function and serum ferritin level in non-diabetic patients with hepatitis C virus infection

LIVER INTERNATIONAL, Issue 4 2003
Masanori Furutani
Abstract Background/Aims: Since impaired glucose tolerance and iron overload are frequently demonstrated in hepatitis C virus (HCV)-related liver diseases, in this study we investigated insulin resistance, pancreatic ,-cell function, i.e., insulin secretion, and serum ferritin levels in patients with HCV infection, especially non-diabetic patients. Methods: Homeostasis model assessments for insulin resistance (HOMA-IR) and ,-cell function (HOMA-,) were performed in 92 HCV-infected patients. Results: The levels of plasma immunoreactive insulin (IRI), HOMA-IR, and HOMA-, were significantly correlated with fasting plasma glucose (FPG) levels. Among the 86 non-diabetics (with an FPG of <126 mg/dl), IRI, HOMA-IR, and HOMA-, were significantly higher in patients with liver cirrhosis than in patients with persistently normal alanine aminotransferase levels. The IRI and HOMA-IR values, but not the HOMA-, values, were correlated with both serum transaminase and ferritin levels in the 65 non-diabetic chronic hepatitis patients. Conclusion: Insulin resistance was connected with impaired glucose tolerance and the severity of liver diseases in non-diabetic patients with HCV infection. Iron overload may be responsible for insulin resistance, or vice versa. Pancreatic ,-cell function was unrelated to the patients' serum ferritin levels. [source]

Serum thioredoxin elucidates the significance of serum ferritin as a marker of oxidative stress in chronic liver diseases

Oxidative stress in red blood cells, platelets and polymorphonuclear leukocytes from patients with myelodysplastic syndrome

EUROPEAN JOURNAL OF HAEMATOLOGY, Issue 6 2007
Hussam Ghoti
Abstract Low-risk myelodysplastic syndrome (MDS) is characterized by cytopenia, mainly anemia, because of ineffective hematopoiesis. Some of the patients with ineffective erythropoiesis, with or without ring sideroblasts in their bone marrow, develop severe anemia requiring frequent blood transfusions and consequently develop iron overload. Excess free iron in cells catalyses the generation of reactive oxygen species (ROS) that cause cell and tissue damage. Using flow cytometry techniques, we compared the oxidative status of red blood cells (RBC), platelets and neutrophils in 14 MDS patients with those of normal donors. The results show that ROS were higher while reduced glutathione (GSH) was lower in their RBC and platelets compared with normal cells. In neutrophils, no difference was found in ROS, while the GSH levels were lower. A correlation (r = 0.6) was found between serum ferritin levels of the patients and the ROS in their RBC and platelets. The oxidative stress was ameliorated by a short incubation with the iron-chelators, the deferrioxamine and deferiprone or with antioxidants such as N -acetylcysteine, suggesting that MDS patients might benefit from treatment with iron-chelators and antioxidants. [source]

Combined therapy of silymarin and desferrioxamine in patients with ,-thalassemia major: a randomized double-blind clinical trial

ORIGINAL ARTICLE Clinical haemophilia: Remission of paroxysmal atrial fibrillation with iron reduction in haemophilia A

HAEMOPHILIA, Issue 5 2010
L. R. ZACHARSKI
Summary., Two male first cousins with mild haemophilia A had baseline factor VIII levels of 12,15% and experienced bleeding requiring coagulation factor infusion therapy with trauma and surgical procedures. Both the patients with haemophilia A also had electrocardiographically documented symptomatic paroxysmal atrial fibrillation (PAF) for several years that had become resistant to pharmacological suppression. Radiofrequency ablation was considered in both the cases but deferred considering refusal of consent by the patients to undergo the procedure. Remission of arrhythmias has been reported in patients with iron-overload syndromes. Body iron stores assessed by serum ferritin levels were elevated in both men but neither had the C282Y or H63D genes for haemochromatosis. Calibrated reduction of iron stores by serial phlebotomy, avoiding iron deficiency, was followed by remission of symptomatic PAF in both cases. Iron reduction may be an effective treatment for arrhythmias apart from the classic iron-overload syndromes and deserves further study particularly in patients with bleeding disorders who might be at risk for arrhythmias and other diseases of ageing. [source]

Iron-overload and genotypic expression of HFE mutations H63D/C282Y and transferrin receptor Hin6I and BanI polymorphism in German patients with hereditary haemochromatosis

INTERNATIONAL JOURNAL OF IMMUNOGENETICS, Issue 3 2000
R. Gottschalk
Gene variations of HFE, a HLA-class I like molecule, are highly associated with hereditary haemochromatosis (HH). Functional as well as molecular studies of the HFE protein have indicated that the molecule is involved in iron metabolism and that the HFE gene variations observed among HH patients affect its interaction with the transferrin receptor (TfR). In the present study, we have therefore analysed the relationship between the HFE gene variants, C282Y and H63D, and body iron status among 85 German HH patients. In addition, two TfR gene polymorphism, TfR-Hin6I and TfR-BanI, were typed that have been reported to define ethnically distinct haplotypes. As controls we used 251/159 healthy German blood donors. Seventy-eight (92%) patients were C292Y homozygous, the H63D mutation was present in five (6%) patients with none of the patients being H63D homozygous. Serum transferrin, transferrin saturation and liver iron content were determined prior to therapeutic intervention. Among C282Y homozygous patients serum ferritin levels (2294 ± 3174 vs. 463 ± 224 µg L,1, P < 0.0001) and transferrin saturation (86 ± 18% vs. 62 ± 25%, P = 0.048) were elevated significantly compared with C282Y and/or H63D heterozygous patients. In addition, the liver iron content (291 ± 165 vs. 138 ± 95 µmol g,1, P = 0.028) and liver iron index (6.4 ± 2.8 vs. 3.2 ± 2.3, P = 0.019) were increased among C282Y homozygotes compared with C282Y heterozygotes. In contrast, no difference was observed between patients and controls regarding the distribution of TfR- Hin6I and TfR- BanI alleles. These data indicate that the iron intake is higher among C282Y homozygous patients compared with C282Y heterozygous or C282Y/H63D compound heterozygous individuals and supports the functional role of the HFE protein in iron metabolism whereas the TfR gene variants seem to have no influence on iron uptake. [source]

Restriction of dietary calories, fat and iron improves non-alcoholic fatty liver disease

JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY, Issue 4 2007
Mika Yamamoto
Abstract Background:, The pathogenesis of non-alcoholic steatohepatitis (NASH) is unclear. Recent studies suggested that oxidative stress plays an important role in the mechanism of NASH. Excessive accumulation of iron in the liver causes oxidative stress. The aim of the present study was to evaluate the grade of hepatic iron accumulation and the therapeutic response to restriction of calories, fat and iron in patients with non-alcoholic fatty liver disease (NAFLD). Methods:, Twenty-seven NAFLD patients were enrolled. The patients were categorized into two groups: 17 patients with NASH and 10 with simple steatosis. Twelve NAFLD patients (NASH, n = 9; simple steatosis, n = 3) were given a dietary prescription including restriction of energy, fat and iron. Results:, Positive iron staining was observed in 71% and 50% of patients with NASH and simple steatosis, respectively. The average energy intake, fat energy fraction and iron intake decreased significantly 6 months after the beginning of the diet in all patients. In addition, the levels of serum transaminase and ferritin were significantly decreased. Conclusion:, Dietary restriction of calories, fat and iron improved NAFLD. Reduced serum ferritin levels appear to reduce oxidative stress in the liver. [source]

Dietary intakes and nutrient status of vegetarian preschool children from a British national survey

JOURNAL OF HUMAN NUTRITION & DIETETICS, Issue 3 2000
C.W. Thane
Background Dietary intakes and nutrient status were compared in meat-eaters and non-meat-eaters from the National Diet and Nutrition Survey of children aged 1.5,4.5 years. Methods Children (n = 1351) were categorized as ,omnivores' or ,vegetarians', according to whether they consumed meat or meat products during a 4-day dietary record. Blood samples were also obtained for analysis of haematological and biochemical nutrient status. Results Three per cent of children were ,vegetarian'. They consumed higher proportions of milk and milk products, although this was significant only in older children (P = 0.007), owing to high consumption by the high proportion of Asian children. In vegetarians, energy intakes tended to be lower in both age groups. Percentage energy from protein and fat were lower, while that from carbohydrate was higher compared with omnivores. Cholesterol intakes were lower, significantly so for younger children (P < 0.001). Intakes of micronutrients were either higher (vitamins C and E, potassium) or lower (niacin and sodium) in younger vegetarians compared with omnivores. Energy-adjusted intakes of iron and zinc did not differ significantly from those of omnivores, although both intakes were low in many children (6,20% < LRNI), particularly in the younger group. Haematological and biochemical nutrient status indices showed few differences. Serum ferritin was lower in vegetarians, significantly so in younger children (P = 0.002). Antioxidant vitamin (A, C and E) status tended to be higher in vegetarians, while vitamin B12 intakes and status were more than adequate. Apart from poorer vitamin D intake and status in older Asian vegetarians, very few ethnic differences were observed. Conclusions Nutrient intakes and status were generally adequate in preschool children who did not eat meat. Although serum ferritin levels were inferior (particularly in vegetarians under 3 years old), the lower intakes of fat, cholesterol and sodium, and higher antioxidant vitamin intakes and status indices were potentially beneficial. Given a balanced diet, adequate nutrient intakes and status can be maintained without consuming meat. [source]

Influence of Helicobacter pylori infection on iron accumulation in hepatitis C

LIVER INTERNATIONAL, Issue 7 2006
Yoshio Sumida
Abstract: Goal: Iron may play a role in the pathogenesis of chronic hepatitis C. Helicobacter pylori (Hp) infection was recently associated with iron-deficiency anemia. We examined the influence of Hp infection on hepatic iron accumulation in hepatitis C. Methods: Ninety-five hepatitis C virus (HCV)-RNA-positive patients, including 60 chronic hepatitis, 17 cirrhosis and 18 hepatocellular carcinoma as well as 95 age- and sex-matched normal subjects without HCV infection as control, were studied. Liver biopsies were also obtained from 44 HCV-infected patients. Serum Hp antibodies were measured by an enzyme-linked immunosorbent assay and clinical data, including iron parameters and histological findings, were compared between Hp-positive and -negative HCV-infected patients. Results: The percentage of serum Hp antibodies was lower in HCV-infected patients than in controls (52/95 (54.7%) vs. 68/95 (71.6%); P<0.05). HCV-infected patients had higher serum ferritin levels than controls (120 [2.8,1700] vs. 58 [2.2,420] ng/ml; P<0.0001). In HCV-infected patients, the serum ferritin levels (medians and [ranges]) in Hp-positive patients were significantly lower than those of Hp-negative patients (99 [8.5,770] vs. 150 [2.8,1700] ng/ml; P<0.05). The grades of hepatic iron deposit in Hp-positive patients were significantly lower than those in Hp-negative patients (P<0.01). Conclusions: Hp infection may at least partly affect hepatic iron accumulation in HCV-related liver diseases. [source]

Insulin resistance/,-cell function and serum ferritin level in non-diabetic patients with hepatitis C virus infection

Serum thioredoxin elucidates the significance of serum ferritin as a marker of oxidative stress in chronic liver diseases

Transient elastography in the assessment of liver fibrosis in adult thalassemia patients,

AMERICAN JOURNAL OF HEMATOLOGY, Issue 8 2010
Mirella Fraquelli
Transient elastography (TE) is a valuable noninvasive technique of measuring liver stiffness and a reliable tool for predicting hepatic fibrosis in patients with chronic liver disease. The role of TE in patients with ,-thalassemia has not been extensively investigated. The present study aimed to evaluate the role of TE in the assessment of hepatic fibrosis in 115 adult patients with ,-thalassemia major (TM) (#59) or intermedia (TI) (#56). TE was performed according to current practice. Histologic data were obtained in 14 cases. Liver iron concentration was assessed by atomic absorption spectrometry and T2* magnetic resonance. In patients with TM, the proportion of anti-HCV positive viremic patients, median serum ferritin levels, and TE values were significantly higher than in TI. In the group of 14 patients who underwent liver biopsy, a significant positive correlation was observed between liver stiffness and fibrosis stage (r = 0.73, P = 0.003). Severe fibrosis is diagnosed with a sensitivity of 60% and a specificity of 89%, whereas cirrhosis is detected with a sensitivity of 100% and a specificity of 92%. At multivariate analysis, the variables independently associated with TE were ALT, GGT, and bilirubin levels in both groups and, in patients with TM, HCV RNA positivity. In ,-thalassemia patients, TE is a reliable tool for assessing liver fibrosis even if the influence of iron overload has to be clarified. Am. J. Hematol. 85:564,568, 2010. © 2010 Wiley-Liss, Inc. [source]

Liver biopsy results in patients with sickle cell disease on chronic transfusions: Poor correlation with ferritin levels

Red blood cell transfusion need at diagnosis adversely affects survival in primary myelofibrosis,increased serum ferritin or transfusion load does not,

Serum pro-hepcidin levels in term and preterm newborns with sepsis

PEDIATRICS INTERNATIONAL, Issue 2 2009
Ece Yapakç
Abstract Background:, An iron regulatory peptide hormone, hepcidin, is also part of the innate immune system and is strongly induced during infections and inflammation. The aim of the present study was to determine serum levels of the 60 aa pro-hormone form of hepcidin (pro-hepcidin) in full-term and preterm newborns with sepsis and to determine the possible relationships between pro-hepcidin levels and serum iron and complete blood count parameters. Methods:, Fifteen preterm newborns with sepsis, 17 healthy preterm, six full-term newborns with sepsis and 16 healthy full-term newborns were included the study. Blood samples were collected from patients with sepsis at the time of clinical diagnosis. Each blood sample was analyzed for complete blood count, serum iron and ferritin concentrations, iron-binding capacity, and pro-hepcidin level. Results:, The mean serum pro-hepcidin level (mean ± SD) in preterm neonates with sepsis and in healthy preterm newborns was 565.4 ± 519.5 ng/mL and 279.8 ± 227.6 ng/mL, respectively (P < 0.05). The mean serum pro-hepcidin level in full-term newborns with sepsis and in healthy full-term neonates was 981.4 ± 415.4 ng/mL and 482 ± 371.9 ng/mL, respectively (P < 0.05). Although the mean serum ferritin levels in the two groups with sepsis were higher when compared with the healthy groups, the difference was not statistically significant in full-term newborns. No statistically significant correlations were found between serum pro-hepcidin levels and any other parameters in each group. Conclusions:, Serum pro-hepcidin levels were higher in newborns with sepsis (either premature or full-term) than they were in healthy newborns at the time of clinical diagnosis. [source]

High prevalence of HFE gene mutations in patients with porphyria cutanea tarda in the Czech Republic

BRITISH JOURNAL OF DERMATOLOGY, Issue 3 2008
K. Kratka
Summary Background, Iron overload and hepatitis C virus (HCV) infection are independent factors which are thought to play a role in the pathogenesis of porphyria cutanea tarda (PCT). Objectives, To determine the prevalence of the HFE gene mutations p.Cys282Tyr (C282Y), p.His63Asp (H63D) and p.Ser65Cys (S65C), the p.Tyr250X (Y250X) mutation of the TFR2 gene, and HCV infection in patients with PCT in the Czech population, and to make comparison of the iron status among the respective genotypes. Methods, Iron metabolism indices, results of mutational analysis and serological markers of HCV infection were examined in 63 patients with PCT. Results, The HFE gene mutations were detected in 70% of patients with PCT compared with 35% in the control group (P < 0·001). Mean serum ferritin levels were increased in all genotypes, the highest being in homozygotes for the p.Cys282Tyr mutation. HCV infection was detected in only 8% of patients with PCT. Conclusions, There was a very high prevalence of the p.Cys282Tyr and p.His63Asp mutations observed in patients with PCT accompanied by mild degrees of iron overload, which was genotype dependent. [source]

Molecular characterization of six unrelated Italian patients affected by pyrimidine 5,-nucleotidase deficiency

BRITISH JOURNAL OF HAEMATOLOGY, Issue 5 2003
Paola Bianchi
Summary. Pyrimidine 5,-nucleotidase deficiency is a rare autosomal recessive disorder characterized by haemolytic anaemia, marked basophilic stippling and accumulation of pyrimidine nucleotides within the erythrocytes. The gene encoding for this enzyme (P5,N-1) has been cloned recently, and seven mutations have so far been identified in 11 unrelated families. We describe the haematological and molecular characteristics of six unrelated Italian patients affected by pyrimidine 5,-nucleotidase deficiency (one from northern and five from southern Italy). The sequence of the complete P5,N-1 gene showed the presence of four different new mutations: a missense mutation AAT,AGT at codon 190 (Asn,Ser), one splicing mutation (IVS9-1 g-c) and two frameshift mutations, DelG576 and InsGG743. Although the molecular defect was homozygous in all patients but one, parents' consanguinity could be confirmed in only one case. InsGG743 was detected in two cases, and DelG576 was found in three patients originating from southern Italy, suggesting a possible geographical distribution of the genetic defect. Haematological data showed the presence of peripheral spherocytosis in all cases, although only one had a concomitant membrane defect. An increase in serum ferritin levels was observed in the splenectomized patients, suggesting that the iron status of these subjects should be monitored and that they should be investigated for potential additional risk factors for iron accumulation. [source]

Mutation spectrum in Australian pedigrees with hereditary hyperferritinaemia,cataract syndrome reveals novel and de novo mutations

BRITISH JOURNAL OF HAEMATOLOGY, Issue 4 2002
Janet L. McLeod
Summary., Hereditary hyperferritinaemia,cataract syndrome (HHCS) (OMIM #600886) is a rare autosomal dominant condition identified by high serum ferritin levels with normal iron saturation and distinctive bilateral cataract. It may be misdiagnosed as haemochromatosis and such patients become anaemic as a result of inappropriate venesection. The elevated serum ferritin is due to a mutation in the iron-responsive element (IRE) of the l -ferritin gene, resulting in excessive l -ferritin production. We report the identification of three Australian pedigrees; one with a previously described mutation at position 40, a pedigree with a novel mutation at position 39 and an individual with a de novo mutation at position 32 of the l -ferritin IRE. [source]

Red blood cell transfusions and iron overload in the treatment of patients with myelodysplastic syndromes

CANCER, Issue 5 2008
Elias Jabbour MD
Abstract BACKGROUND Approximately 15,000 new cases of myelodysplastic syndromes (MDS) are expected in the United States each year. METHODS The mainstay for the management of myelodysplastic syndromes (MDS) is supportive therapy with red blood cell (RBC) transfusions to improve the patient's quality of life. RBC transfusions enable adequate tissue oxygenation and increase hemoglobin levels, improve fatigue, and improve the physical and intellectual activity of patients. Up to 90% of patients with MDS will receive RBC transfusions during the course of their disease, and many will become chronically dependent on transfusions to manage their anemia. These transfusions lead to an accumulation of excess iron that, in turn, can develop into a condition known as iron overload, causing clinical consequences like hypertransaminasemia and cirrhosis, dilated cardiomyopathy, and progressive dysfunction of the endocrine glands. RESULTS Studies in patients with MDS have indicated that iron overload because of RBC transfusions was an independent, adverse prognostic factor for overall survival (OS) and leukemia-free survival (LFS): OS and LFS were significantly shorter in transfusion-dependent patients with MDS than in those who were not transfusion dependent. CONCLUSIONS Although the National Comprehensive Cancer Network guidelines for the treatment of patients with MDS recommend the use of RBC transfusions as supportive care, they further recommend that the iron burden of transfused patients be monitored regularly and that iron chelation therapy be considered to maintain serum ferritin levels of <1000 ng/mL. Cancer 2008. © 2008 American Cancer Society. [source]