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Article: Serum ferritin and erythrocyte indices in iron overload.

Fiorelli, Gemino

Blood transfusion = Trasfusione del sangue

2009 Volume 5, Issue 4, Page(s) 187–188

Language	English
Publishing date	2009-02-10
Publishing country	Italy
Document type	Editorial
ZDB-ID	2135732-8
ISSN	1723-2007 ; 0041-1787
ISSN	1723-2007 ; 0041-1787
DOI	10.2450/2007.0036-07
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Article ; Online: Mutation analysis of hepcidin and ferroportin genes in Italian prospective blood donors with iron overload.

Duca, Lorena / Delbini, Paola / Nava, Isabella / Vaja, Valentina / Fiorelli, Gemino / Cappellini, Maria Domenica

American journal of hematology

2009 Volume 84, Issue 9, Page(s) 592–593

Abstract: Maintenance of iron balance is essential for humans and requires the coordinate regulation of iron transport into plasma from dietary sources in the duodenum, from recycled senescent red cells in macrophages, and from storage in hepatocytes. Hepcidin, a ... ...

Abstract	Maintenance of iron balance is essential for humans and requires the coordinate regulation of iron transport into plasma from dietary sources in the duodenum, from recycled senescent red cells in macrophages, and from storage in hepatocytes. Hepcidin, a recently identified antimicrobial peptide produced in the liver, has been shown to play a central role in the homeostatic regulation of iron absorption and distribution [1]. It is a negative regulator of iron absorption in the small intestine and of iron release from macrophages engaged in the recycling of iron senescent erythrocytes [2]. The human hepcidin gene contains three exons that encode a 72-aa precursor (pro-hepcidin) with a characteristic furin cleavage site immediately N-terminal to the 25-aa major hepcidin species found in plasma and urine [3]. Recently, hepcidin has been shown to regulate iron homeostasis by interaction with ferroportin, an iron cellular exporter highly expressed in absorptive enterocytes, macrophages, hepatocytes, and placental cells [4].
MeSH term(s)	Antimicrobial Cationic Peptides/genetics ; Blood Donors ; Cation Transport Proteins/genetics ; DNA Mutational Analysis ; Hepcidins ; Iron Overload/epidemiology ; Iron Overload/genetics ; Italy
Chemical Substances	Antimicrobial Cationic Peptides ; Cation Transport Proteins ; HAMP protein, human ; Hepcidins ; metal transporting protein 1
Language	English
Publishing date	2009-09
Publishing country	United States
Document type	Letter
ZDB-ID	196767-8
ISSN	1096-8652 ; 0361-8609
ISSN (online)	1096-8652
ISSN	0361-8609
DOI	10.1002/ajh.21465
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Article: Hematologically important mutations: acute intermittent porphyria.

Cappellini, Maria Domenica / Martinez di Montemuros, Franco / Di Pierro, Elena / Fiorelli, Gemino

Blood cells, molecules & diseases

2002 Volume 28, Issue 1, Page(s) 5–12

MeSH term(s)	Data Collection ; Databases, Nucleic Acid ; Genome, Human ; Humans ; Hydroxymethylbilane Synthase/genetics ; Mutation ; Porphyria, Acute Intermittent/genetics
Chemical Substances	Hydroxymethylbilane Synthase (EC 2.5.1.61)
Language	English
Publishing date	2002-01-16
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1237083-6
ISSN	1096-0961 ; 1079-9796
ISSN (online)	1096-0961
ISSN	1079-9796
DOI	10.1006/bcmd.2001.0478
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Article: Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in the Fars province of Iran.

Karimi, Mehran / Martinez di Montemuros, Franco / Danielli, Maria Gabriella / Farjadian, Shirin / Afrasiabi, Abdolreza / Fiorelli, Gemino / Cappellini, Maria Domenica

Haematologica

2003 Volume 88, Issue 3, Page(s) 346–347

MeSH term(s)	Adolescent ; Adult ; Child ; Child, Preschool ; DNA Mutational Analysis ; Female ; Glucosephosphate Dehydrogenase Deficiency/epidemiology ; Glucosephosphate Dehydrogenase Deficiency/genetics ; Humans ; Infant ; Infant, Newborn ; Iran/epidemiology ; Male ; Mutation ; Prevalence
Language	English
Publishing date	2003-03
Publishing country	Italy
Document type	Letter
ZDB-ID	2333-4
ISSN	1592-8721 ; 0390-6078 ; 0017-6567
ISSN (online)	1592-8721
ISSN	0390-6078 ; 0017-6567
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Article: Peripheral lymphocytes and intracellular cytokines in C282Y homozygous hemochromatosis patients.

Fabio, Giovanna / Zarantonello, Marina / Mocellin, Cristina / Bonara, Paola / Corengia, Chiara / Fargion, Silvia / Fiorelli, Gemino

Journal of hepatology

2002 Volume 37, Issue 6, Page(s) 753–761

Abstract: Background/aims: Several abnormalities in the immune status of hereditary hemochromatosis patients have been reported. We evaluated the peripheral blood lymphocytes phenotype and cytokine profile of CD8(+) and CD4(+) T cells in C282Y homozygous ... ...

Abstract	Background/aims: Several abnormalities in the immune status of hereditary hemochromatosis patients have been reported. We evaluated the peripheral blood lymphocytes phenotype and cytokine profile of CD8(+) and CD4(+) T cells in C282Y homozygous hereditary hemochromatosis patients compared to control subjects. Methods: Peripheral blood lymphocytes from 17 asymptomatic patients and 14 control subjects were analyzed. We determined the distribution of lymphocyte subsets and investigated at single-cell level by flow-cytometry the potential of cytokines production. The frequency of cytokine (interferon gamma, tumor necrosis factor alpha, interleukin 2 (IL-2), IL-4, IL-5, IL-10 and IL-13) producing cells was assessed in total T-lymphocytes, CD3(+)CD8(+) and CD3(+)CD4(+) subsets. Results: The patients studied showed a significant decrease of total lymphocyte count, T CD4(+)CD3(+), CD28(+), CD8(+)CD28(+) lymphocytes and natural killer (NK) CD56(+)CD16(+)CD3(-) cells. The reduction of CD28(+) and CD8(+)CD28(+) lymphocyte count was inversely related to transferrin saturation index. An increase in the ability of T-cells to produce all the cytokines studied and a major increase in IL-4 and IL-10 production in the CD3(+)CD8(+) subset was found. Our results demonstrate that activated Th1 and Th2 lymphocytes coexist in the peripheral blood of hereditary hemochromatosis patients and that T-cytotoxic (Tc) 2 subset is more expanded than in control population. Conclusions: The association of a decreased number of T CD8(+) cytotoxic lymphocytes and NK cells, and the development of Tc2 cells in asymptomatic C282Y homozygous patients represents an imbalance in their immune function that might contribute to the high incidence of hepatocarcinoma.
MeSH term(s)	Adult ; Antigens, CD/analysis ; CD4-Positive T-Lymphocytes/metabolism ; CD8-Positive T-Lymphocytes/metabolism ; Case-Control Studies ; Cytokines/metabolism ; Female ; Hemochromatosis/genetics ; Hemochromatosis/metabolism ; Hemochromatosis/pathology ; Homozygote ; Humans ; Intracellular Fluid/metabolism ; Intracellular Membranes/metabolism ; Lymphocyte Count ; Lymphocytes/pathology ; Lymphocytes/physiology ; Male ; Middle Aged ; Phenotype ; T-Lymphocyte Subsets/immunology ; T-Lymphocyte Subsets/pathology ; Transferrin/analysis
Chemical Substances	Antigens, CD ; Cytokines ; Transferrin
Language	English
Publishing date	2002-10-24
Publishing country	Netherlands
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	605953-3
ISSN	1600-0641 ; 0168-8278
ISSN (online)	1600-0641
ISSN	0168-8278
DOI	10.1016/s0168-8278(02)00276-3
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Article: Changes in erythropoiesis, iron metabolism and oxidative stress after half-marathon.

Duca, Lorena / Da Ponte, Alessandro / Cozzi, Mariarita / Carbone, Annalisa / Pomati, Mauro / Nava, Isabella / Cappellini, Maria Domenica / Fiorelli, Gemino

Internal and emergency medicine

2006 Volume 1, Issue 1, Page(s) 30–34

Abstract: Objective: In marathon runners changes in red blood cell count, haematocrit and haemoglobin in relation to haemodilution have been reported. Moreover, it has been hypothesized that strenuous exercise induces oxidant stress through several different ... ...

Abstract	Objective: In marathon runners changes in red blood cell count, haematocrit and haemoglobin in relation to haemodilution have been reported. Moreover, it has been hypothesized that strenuous exercise induces oxidant stress through several different mechanisms. This study investigated the haematological variables, iron status and oxidative indices before, immediately and 48 h after a race in 8 healthy trained males aged 33-44 years running a 21-km marathon in 79 +/- 3 min. Methods: The haematological parameters were determined by standard procedures. Erythropoietin and soluble-transferrin receptor were evaluated immunoenzymatically. Nontransferrin-bound iron (NTBI) was assayed by high-performance liquid chromatography after nitrilotriacetic acid chelation. Malonyldialdehyde (MDA) concentration was assayed colorimetrically. Results: The total number of reticulocytes rose significantly after the run with a significant increase in the high-RNA-content fraction (14 +/- 5, p < 0.0006). Erythropoietin rose by 26% (15.0 +/- 2.8 mU/ml, p < 0.004) and by 25% (14.9 +/- 2.13 mU/ml, p < 0.02) immediately and 48 h after the race, respectively. Serum iron and serum ferritin remained unchanged but NTBI and serum MDA increased significantly immediately after running (1.16 +/- 0.40 mmol/l, p < 0.0008; 0.76 +/- 0.16 mmol/l, p < 0.0001). Significant positive correlations at any time between MDA and polymorphonuclear neutrophils (p = 0.0005), MDA and NTBI (p = 0.0018), polymorphonuclear neutrophils and NTBI (p = 0.0008) and between lactate dehydrogenase and NTBI (p = 0.0212) were observed. Conclusions: The erythropoietic changes observed in marathon runners are the results of several interacting mechanisms that involve either the haemopoietic system per se or erythrocyte haemolysis and oxidative stress.
MeSH term(s)	Adult ; Data Interpretation, Statistical ; Erythropoiesis ; Ferritins/analysis ; Flow Cytometry ; Humans ; Immunoenzyme Techniques ; Iron/blood ; Iron/metabolism ; Male ; Malondialdehyde/blood ; Nephelometry and Turbidimetry ; Oxidative Stress/physiology ; Receptors, Transferrin/blood ; Reference Values ; Reticulocytes/physiology ; Running/physiology ; Time Factors
Chemical Substances	Receptors, Transferrin ; Malondialdehyde (4Y8F71G49Q) ; Ferritins (9007-73-2) ; Iron (E1UOL152H7)
Language	English
Publishing date	2006-08-29
Publishing country	Italy
Document type	Comparative Study ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2454173-4
ISSN	1970-9366 ; 1828-0447
ISSN (online)	1970-9366
ISSN	1828-0447
DOI	10.1007/bf02934717
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Article: Exercise capacity in patients with beta-thalassaemia intermedia.

Agostoni, Piergiuseppe / Cerino, Mario / Palermo, Pietro / Magini, Alessandra / Bianchi, Michele / Bussotti, Maurizio / Fiorelli, Gemino / Cappellini, Maria D

British journal of haematology

2005 Volume 131, Issue 2, Page(s) 278–281

Abstract: Thalassaemia intermedia patients can suffer fatigue and exercise capacity reduction, possibly because of anaemia, deconditioning and lack of exercise-induced haemoconcentration. We studied 21 beta-thalassaemia intermedia patients, 10 splenectomised ( ... ...

Abstract	Thalassaemia intermedia patients can suffer fatigue and exercise capacity reduction, possibly because of anaemia, deconditioning and lack of exercise-induced haemoconcentration. We studied 21 beta-thalassaemia intermedia patients, 10 splenectomised (group A) and 11 not splenectomised (group B). Patients were evaluated by cardiopulmonary exercise test with blood sampling for haemoglobin and plasma protein measurements at rest and peak. During exercise, an isolated increase of haemoglobin suggested spleen contraction while a parallel increase of haemoglobin and proteins suggested fluid filtration through capillary wall. Groups were homogeneous for age and gender. Peak oxygen consumption (VO2) was 22.5 +/- 4.4 ml/min/kg (51 +/- 14%) and 24.3 +/- 7.0 (53 +/- 12%) in groups A and B respectively [not significant (NS)]. At rest, haemoglobin was 8.8 g/dl in both groups. Exercise-induced increment was 0.4 +/- 0.2 and 1.0 +/- 0.4 g/dl (P < 0.001) for haemoglobin and 4.0 +/- 3.0 and 5.0 +/- 4.0 g/l (NS) for proteins, in groups A and B respectively. Anaemia was the major cause of peak VO2 reduction (1097 +/- 260 ml/min). However, anaemia did not explain the entire exercise capacity reduction, suggesting the presence of muscular deconditioning. Exercise capacity is reduced in beta-thalassaemia intermedia because of anaemia and muscular deconditioning. Spleen contraction does not significantly influence exercise capacity although exercise-induced haemoconcentration was greater in patients with spleen.
MeSH term(s)	Adult ; Blood Proteins/analysis ; Exercise Tolerance ; Female ; Hematocrit ; Hemoglobins/analysis ; Humans ; Isotonic Contraction ; Male ; Middle Aged ; Muscle, Skeletal/physiopathology ; Oxygen Consumption ; Physical Education and Training ; Spleen/physiopathology ; Splenectomy ; beta-Thalassemia/metabolism ; beta-Thalassemia/physiopathology
Chemical Substances	Blood Proteins ; Hemoglobins
Language	English
Publishing date	2005-10
Publishing country	England
Document type	Comparative Study ; Journal Article
ZDB-ID	80077-6
ISSN	1365-2141 ; 0007-1048
ISSN (online)	1365-2141
ISSN	0007-1048
DOI	10.1111/j.1365-2141.2005.05765.x
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Article: Spectrum and haplotypes of the HFE hemochromatosis gene in Iran: H63D in beta-thalassemia major and the first E277K homozygous.

Karimi, Mehran / Yavarian, Majid / Delbini, Paola / Harteveld, Cornelis L / Farjadian, Shirin / Fiorelli, Gemino / Giordano, Piero C

The hematology journal : the official journal of the European Haematology Association

2004 Volume 5, Issue 6, Page(s) 524–527

Abstract: We present the molecular analysis of HFE gene in 400 Southwest Iranian individuals. We have studied 43 newborn, selected for the presence of HbBart's at birth, 203 normal adult and 154 transfused patients affected with beta-thalassemia. Mutation analysis ...

Abstract	We present the molecular analysis of HFE gene in 400 Southwest Iranian individuals. We have studied 43 newborn, selected for the presence of HbBart's at birth, 203 normal adult and 154 transfused patients affected with beta-thalassemia. Mutation analysis consisted of amplification and direct sequencing using two different pairs of forward and reverse primers. The C282Y and S65C mutations were not found. The H63D mutation was present with an allele frequency of 0.10 in newborns, 0.082 in normal adults and 0.080 in the beta-thalassemia major populations, respectively. No differences were found between normal adults and thalassemia major patients suggesting that this mutation does not increase mortality in beta-thalassemia. The H63D mutation was found associated with haplotype VI in 41% of the chromosomes. Other haplotypes were found suggesting a multicentric origin rather than a single mutation of European origin. While sequencing exon 4, a G --> A transition was found in the proximity of the C282Y mutation. The effect of this single base substitution (E277K) previously reported in an Asian individual and now found in homozygous form in a young transfused and chelated homozygous beta-thalassemia patient is not yet known.
MeSH term(s)	Adolescent ; Adult ; Base Pairing ; Child ; Chromosomes/genetics ; DNA Mutational Analysis ; Ferritins/blood ; Gene Frequency ; Genetics, Population ; Haplotypes/genetics ; Hemochromatosis/genetics ; Hemochromatosis Protein ; Hemoglobins, Abnormal/genetics ; Histocompatibility Antigens Class I/genetics ; Homozygote ; Humans ; Infant, Newborn ; Iran ; Membrane Proteins/genetics ; Mutagenesis, Site-Directed ; Polymorphism, Genetic ; beta-Thalassemia/blood ; beta-Thalassemia/genetics
Chemical Substances	HFE protein, human ; Hemochromatosis Protein ; Hemoglobins, Abnormal ; Histocompatibility Antigens Class I ; Membrane Proteins ; Ferritins (9007-73-2) ; hemoglobin Bart's (9056-09-1)
Language	English
Publishing date	2004
Publishing country	England
Document type	Comparative Study ; Journal Article
ZDB-ID	2041286-1
ISSN	1476-5632 ; 1466-4860
ISSN (online)	1476-5632
ISSN	1466-4860
DOI	10.1038/sj.thj.6200553
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Article: Cytotoxic T-lymphocyte antigen-4 A49G polymorphism is associated with susceptibility to and severity of alcoholic liver disease in Italian patients.

Valenti, Luca / De Feo, Tullia / Fracanzani, Anna Ludovica / Fatta, Erika / Salvagnini, Mario / Aricò, Sarino / Rossi, Giorgio / Fiorelli, Gemino / Fargion, Silvia

Alcohol and alcoholism (Oxford, Oxfordshire)

2004 Volume 39, Issue 4, Page(s) 276–280

Abstract: Aims: To determine whether the functional A49G polymorphism of cytotoxic T-lymphocyte antigen-4 (CTLA-4), a T-cell surface molecule that modulates T-lymphocyte activation and influences the risk of developing alcohol-induced autoantibodies, plays a role ...

Abstract	Aims: To determine whether the functional A49G polymorphism of cytotoxic T-lymphocyte antigen-4 (CTLA-4), a T-cell surface molecule that modulates T-lymphocyte activation and influences the risk of developing alcohol-induced autoantibodies, plays a role in susceptibility to alcoholic liver disease (ALD) and influences disease severity in Italian alcohol abusers. Methods: One hundred and eighty-three patients with chronic ALD (61 cirrhosis), 115 end-stage HCV cirrhosis, 102 non-alcoholic fatty liver disease (NAFLD), 93 healthy subjects and 43 heavy drinkers without liver disease were studied. CTLA-4 gene polymorphism was analysed by restriction analysis. Results: The frequency of the CTLA-4 polymorphism was higher in patients with ALD than in patients with HCV chronic hepatitis and NAFLD, healthy subjects (P < 0.0001), and heavy drinkers without liver disease (P = 0.02). In patients with ALD, homozygosity for the CTLA-4 polymorphic allele (G/G genotype) was more represented in subjects with cirrhosis (P = 0.047), and independently associated with the risk of cirrhosis (OR 3.5; P = 0.03). Conclusions: The CTLA-4 polymorphic G allele, probably by interfering with the immune response, may confer susceptibility to ALD and, in homozygous state, to alcoholic cirrhosis.
MeSH term(s)	Adenine ; Adult ; Aged ; Alleles ; Antigens, CD ; Antigens, Differentiation/genetics ; CTLA-4 Antigen ; Female ; Genetic Predisposition to Disease/genetics ; Genotype ; Guanine ; Humans ; Italy/epidemiology ; Liver Diseases, Alcoholic/epidemiology ; Liver Diseases, Alcoholic/genetics ; Male ; Middle Aged ; Odds Ratio ; Polymorphism, Genetic/genetics ; Prevalence ; Severity of Illness Index ; T-Lymphocytes, Cytotoxic/immunology
Chemical Substances	Antigens, CD ; Antigens, Differentiation ; CTLA-4 Antigen ; CTLA4 protein, human ; Guanine (5Z93L87A1R) ; Adenine (JAC85A2161)
Language	English
Publishing date	2004-07
Publishing country	England
Document type	Comparative Study ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	604956-4
ISSN	1464-3502 ; 0735-0414 ; 0309-1635
ISSN (online)	1464-3502
ISSN	0735-0414 ; 0309-1635
DOI	10.1093/alcalc/agh047
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Article: Analysis of HFE and TFR2 mutations in selected blood donors with biochemical parameters of iron overload.

De Gobbi, Marco / Daraio, Filomena / Oberkanins, Christian / Moritz, Anne / Kury, Fritz / Fiorelli, Gemino / Camaschella, Clara

Haematologica

2003 Volume 88, Issue 4, Page(s) 396–401

Abstract: Background and objectives: Hereditary hemochromatosis is a recessive condition characterized by iron accumulation in several organs, followed by organ damage and failure. The disorder is prevalently due to C282Y and H63D mutations in the HFE gene, but ... ...

Abstract	Background and objectives: Hereditary hemochromatosis is a recessive condition characterized by iron accumulation in several organs, followed by organ damage and failure. The disorder is prevalently due to C282Y and H63D mutations in the HFE gene, but additional HFE and TFR2 mutations have been reported. Early iron overload may be assessed by biochemical parameters such as increased transferrin saturation and serum ferritin. Design and methods: Taking advantage of the collection of 178 DNA samples selected for increased transferrin saturation (>50% in males and >45% in females) from a previous large scale screening of Italian blood donors, we simultaneously assessed the presence of 14 hemochromatosis-associated molecular defects (11 of HFE and 3 of TFR2) by a reverse hybridization-based strip assay. Results: In the series studied the overall C282Y allele frequency was 9% and that of the H63D and S65C was 22.2% and 1.4%, respectively. One rare HFE allele (E168Q), but no TFR2 mutation was detected. When checked at a second examination, transferrin saturation was significantly higher in C282Y homozygotes, H63D/ C282Y compound heterozygotes and H63D homozygotes as compared to wild-type subjects (p<0.05). Interpretation and conclusions: Our results confirm previous findings on C282Y and H63D mutations in Italy, show that the C282Y allele frequency is enriched in samples selected for altered iron parameters, and that a few rare genotypes are present in Northern Italy. None of the known TFR2 mutations was identified in this series confirming the preliminary indication of their rare occurrence. Subjects with hemochromatosis-associated genotypes show a persistently higher mean transferrin saturation than do those with wild type genotypes.
MeSH term(s)	Blood Donors ; DNA Mutational Analysis ; Female ; Gene Frequency ; Genotype ; Hemochromatosis Protein ; Histocompatibility Antigens Class I/genetics ; Humans ; Iron Overload/genetics ; Italy/epidemiology ; Male ; Membrane Proteins/genetics ; Molecular Epidemiology ; Receptors, Transferrin/genetics
Chemical Substances	HFE protein, human ; Hemochromatosis Protein ; Histocompatibility Antigens Class I ; Membrane Proteins ; Receptors, Transferrin ; TFR2 protein, human
Language	English
Publishing date	2003-04
Publishing country	Italy
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2333-4
ISSN	1592-8721 ; 0390-6078 ; 0017-6567
ISSN (online)	1592-8721
ISSN	0390-6078 ; 0017-6567
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