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    HLA Class I Chromosomal Region, Genes, and Products: Facts and Questions.
    Crit Rev Immunol 2017 ;37(2-6):317-357
    Unite INSERM 395, CHU Purpan, BP 3028, 31024 Toulouse, France.
    Among the various areas of recent investigation in the field of human MHC class I antigens, the following have been selected for discussion in this review: (1) classical HLA class I genes: are they ubiquitously expressed?, what are the special features of their polymorphism?, are HLA-C molecules functional?, (2) non-classical HLA class I gene products: how restricted is their tissue distribution?, do they exhibit a little polymorphism?, what is their function, if any? (3) non-HLA genes recently detected in the HLA class I chromosomal region: are some of them involved in immunological function and development?, (4) other novel coding sequences present, or possibly present, in the region: the hemochromatosis gene, grc region and associated tumor suppressor genes, housekeeping genes, human equivalent of the murine H-2M region and Ped gene; (5) transcriptional regulation: are there cis-regulatory elements, including locus control region(s). located elsewhere than in the promoters? are CpG methylation, gene imprinting, chromatin structure, DNA rearrangement also implicated? what are the transcription factors involved and how do they interact with each other? is there HLA class I locus-, allele-, or isoform-specific regulation? is class I gene expression dysregulated in human tumors? The answers to these questions are crucial for the development of the future directions for research. Read More

    Inter-method reproducibility of biexponential R MR relaxometry for estimation of liver iron concentration.
    Magn Reson Med 2018 May 16. Epub 2018 May 16.
    Radiology, University of Texas Southwestern Medical Center, Dallas, Texas.
    Purpose: To assess the reproducibility of biexponential R -relaxometry MRI for estimation of liver iron concentration (LIC) between proprietary and nonproprietary analysis methods.

    Methods: This single-center retrospective study, approved by investigational review board and compliant with the Health Insurance Portability and Accountability Act, included 40 liver MRI exams in 38 subjects with suspected or known iron overload. From spin-echo images of the liver, acquired at 5 different echo times (TE = 6-18 ms), biexponential R maps were calculated using 1 proprietary (FerriScan, Resonance Health Ltd. Read More

    Unusual case of iron overload with cancer-mimicking abdominal splenosis.
    BMJ Case Rep 2018 May 16;2018. Epub 2018 May 16.
    Department of Medicine, Unit of Internal Medicine, Azienda Ospedaliera Universitaria Integrata Verona, University of Verona, Verona, Italy.
    A 48-year-old man, former alcohol abuser and drug addicted, was referred to our tertiary referral centre for iron disorders because of marked hyperferritinaemia. His clinical history revealed chronic hepatitis C, ß-thalassaemia trait and post-traumatic splenectomy at age of 22. MRI-estimated liver iron content was markedly elevated, while first-line genetic test for haemochromatosis was negative. Read More

    Liver Failure and Conjugated Hyperbilirubinemia in a Preterm Neonate: Role of Early IVIG and Exchange Transfusion.
    AJP Rep 2018 Apr 14;8(2):e95-e98. Epub 2018 May 14.
    Department of Pediatrics, John R. Oishei Children's Hospital, Buffalo, New York.
    Neonatal liver failure (NLF) is a rare diagnosis but carries with it significant risks of mortality and morbidity. Common etiologies for NLF include metabolic causes, gestational alloimmune liver disease (GALD or neonatal hemochromatosis), and viral infections. We report a case of liver failure in a premature infant with abnormal iron profile within 48 hours of birth. Read More

    A severe hemojuvelin mutation leading to late onset of HFE2-hemochromatosis.
    Dig Liver Dis 2018 Apr 27. Epub 2018 Apr 27.
    University of Milano-Bicocca - Department of Medicine and Surgery, Monza, Italy; Centre for Rare Diseases - Disorders of Iron Metabolism - ASST-Monza, S. Gerardo Hospital Monza, Italy; Medical Genetics - ASST-Monza, S. Gerardo Hospital, Monza, Italy. Electronic address:

    Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory.
    Am J Hum Genet 2018 May 3. Epub 2018 May 3.
    Department of Molecular and Medical Genetics, Knight Diagnostic Laboratories, Oregon Health & Science University, Portland, OR 97239, USA. Electronic address:
    Advances in sequencing technologies permit the analysis of a larger selection of genes for preconception carrier screening. The study was designed as a sequential carrier screen using genome sequencing to analyze 728 gene-disorder pairs for carrier and medically actionable conditions in 131 women and their partners (n = 71) who were planning a pregnancy. We report here on the clinical laboratory results from this expanded carrier screening program. Read More

    Hemochromatosis: Evaluation of the dietary iron model and regulation of hepcidin.
    Biochim Biophys Acta 2018 May 9. Epub 2018 May 9.
    The Liver Disease and Iron Disorders Research Group, Institute of Health and Biomedical Innovation, School of Biomedical Sciences, Queensland University of Technology (QUT), Brisbane, Queensland, Australia. Electronic address:
    Our knowledge of iron homeostasis has increased steadily over the last two decades; much of this has been made possible through the study of animal models of iron-related disease. Analysis of transgenic mice with deletions or perturbations in genes known to be involved in systemic or local regulation of iron metabolism has been particularly informative. The effect of these genes on iron accumulation and hepcidin regulation is traditionally compared with wildtype mice fed a high iron diet, most often a 2% carbonyl iron diet. Read More

    [Successful treatment of X-linked sideroblastic anemia with ALAS2 R452H mutation using vitamin B].
    Rinsho Ketsueki 2018 ;59(4):401-406
    Division of Hematology, Department of Internal Medicine, Shinshu University School of Medicine.
    A 45-year-old man presented with fatigue and pain in the finger joints. Despite having a history of suspected sideroblastic anemia since the age of 18 years, he had not been followed up for years. Upon presentation, laboratory data revealed microcytic anemia and elevated serum ferritin levels. Read More

    Phenotypic analysis of hemochromatosis subtypes reveals variations in severity of iron overload and clinical disease.
    Blood 2018 May 9. Epub 2018 May 9.
    Institute of Health and Biomedical Innovation, School of Biomedical Sciences, Queensland University of Technology, Brisbane, QLD, Australia
    The clinical progression of HFE-related hereditary hemochromatosis (HH) and its phenotypic variability has been well studied. Less is known about the natural history of non-HFE HH caused by mutations in the , or genes. The purpose of this study was to compare the phenotypic and clinical presentations of hepcidin-deficient forms of HH. Read More

    Heparin inhibits intracellular Mycobacterium tuberculosis bacterial replication by reducing iron levels in human macrophages.
    Sci Rep 2018 May 8;8(1):7296. Epub 2018 May 8.
    Department of Infectious Diseases, College of Veterinary Medicine, University of Georgia, Athens, GA, 30602, USA.
    Iron is a crucial micronutrient for both mammals and their associated pathogens, and extensive literature has shown that Mycobacterium tuberculosis (Mtb) bacilli inhibited from acquiring iron from the host are severely attenuated. In contrast, increased dietary iron concentrations or patients with hemochromatosis have long been associated with a more severe tuberculosis (TB) disease outcome. We have observed that upon macrophage infection, Mtb bacilli strongly promote intracellular iron sequestration, both through increased expression of hepcidin, a key mammalian iron regulatory protein, and downregulation of the iron exporter protein, ferroportin. Read More

    Simultaneous presentation of hereditary hyperferritinaemia cataract syndrome and hereditary haemochromatosis.
    Clin Exp Ophthalmol 2018 May 8. Epub 2018 May 8.
    Department of Ophthalmology Flinders University, Flinders Medical Centre, Adelaide, SA, Australia.
    Hereditary hyperferritinaemia cataract syndrome (HHCS, OMIM 600886) is a rare autosomal dominant disorder characterised by early cataract formation and isolated high serum ferritin. Typical cataracts in HHCS are of a distinctive morphology characterised by progressive axial and peripheral white flecks with small crystalline aggregates . Read More

    Radiological features of crystal-induced arthropathy associated with hereditary hemochromatosis with homozygous C282Y mutation.
    Reumatol Clin 2018 May 3. Epub 2018 May 3.
    Servicio de Reumatología, Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Tenerife, España. Electronic address:
    I present a clinical case of a 64-year-old male patient with hemochromatosis (homozygous C282Y) and crystal induced arthropathy showing the most common radiological features found in this metabolic disorder and the differences that may exist when compared to other primary degenerative processes or other inflammatory pathologies. Read More

    Deletion of ferroportin in murine myeloid cells increases iron accumulation and stimulates osteoclastogenesis in vitro and in vivo.
    J Biol Chem 2018 May 3. Epub 2018 May 3.
    Internal Medicine, University of Arkansas for Medical Sciences, United States.
    Osteoporosis, osteopenia, and pathological bone fractures are frequent complications of iron-overload conditions such as hereditary hemochromatosis, thalassemia, and sickle cell disease. Moreover, animal models of iron overload have revealed increased bone resorption and decreased bone formation. Although systemic iron overload affects multiple organs and tissues, leading to significant changes on bone modeling and remodeling, the cell autonomous effects of excessive iron on bone cells remain unknown. Read More

    Haemochromatosis: a clinical update for the practising physician.
    Intern Med J 2018 May;48(5):509-516
    School of Medicine, The University of Queensland, Brisbane, Queensland, Australia.
    Haemochromatosis is most commonly due to the autosomal recessive inheritance of a C282Y substitution in the HFE protein, whereby both alleles of the corresponding gene are affected. The disease is characterised by an inappropriate increase in intestinal iron absorption due to reduced expression of the iron regulatory protein, hepcidin. Progressive iron deposition in parenchymal tissues may ultimately lead to liver and other organ toxicity. Read More

    Iron excess upregulates SPNS2 mRNA levels but reduces sphingosine-1-phosphate export in human osteoblastic MG-63 cells.
    Osteoporos Int 2018 May 3. Epub 2018 May 3.
    INSERM, INRA, Univ Rennes1, Univ Bretagne Loire, Nutrition, Metabolism, and Cancer, Rennes, France.
    We aimed to study the mechanisms involved in bone-related iron impairment by using the osteoblast-like MG-63 cell line. Our results indicate that iron impact the S1P/S1PR signalizing axis and suggest that iron can affect the S1P process and favor the occurrence of osteoporosis during chronic iron overload.

    Introduction: Systemic iron excess favors the development of osteoporosis, especially during genetic hemochromatosis. Read More

    Eryptosis in Haemochromatosis: Implications for rheology.
    Clin Hemorheol Microcirc 2018 Apr 14. Epub 2018 Apr 14.
    Department of Physiological Sciences, Stellenbosch University, South Africa.
    Background: Haemochromatosis is an iron-storage disease with different genetic mutations, characterized by an increased intestinal absorption of iron, resulting in a deposition of excessive amounts of iron in parenchymal cells. When the iron is released in the blood, it is left in an unliganded form, where it can participate in Haber-Weiss and Fenton reactions, creating hydroxyl radicals. Erythrocytes (RBCs) are particularly vulnerable to hydroxyl radical damage, which can result in eryptosis (programmed cell death similar to apoptosis). Read More

    Evaluation of a bone morphogenetic protein 6 variant as a cause of iron loading.
    Hum Genomics 2018 Apr 25;12(1):23. Epub 2018 Apr 25.
    Institute of Health and Biomedical Innovation and School of Biomedical Sciences, Queensland University of Technology (QUT), 60 Musk Avenue, Kelvin Grove, Brisbane, Queensland, 4059, Australia.
    Background: Atypical iron overload without variation in the five clinically associated hereditary hemochromatosis genes is now recognized; however, their etiology remains unknown. Since the identification of iron overload in the bone morphogenetic protein 6 (Bmp6) knockout mouse, the search has been on for clinically pathogenic variants in the BMP6 gene. A recent report proposes that variants in the pro-peptide region of BMP6 are the underlying cause of several cases of iron overload. Read More

    Whole Exome Sequencing Identifies Unique Mutations and Copy Number Losses in Calcifying Fibrous Tumor of the Pleura: Report of Three Cases and Review of the Literature.
    Hum Pathol 2018 Apr 21. Epub 2018 Apr 21.
    University of Pittsburgh Medical Center (UPMC), Department of Pathology, 200 Lothrop Street, Pittsburgh, PA 15213.
    Calcifying fibrous tumor of the pleura (CFTP) is a rare mesenchymal tumor of unknown pathogenesis. The diagnosis often requires exclusion of other common entities. Our aim was to determine if genomic changes were associated with CFTP that could contribute to mechanisms underlying tumorigenesis. Read More

    Investigation and management of a raised serum ferritin.
    Br J Haematol 2018 May 19;181(3):331-340. Epub 2018 Apr 19.
    Department of Haematology, Plymouth Hospitals NHS Trust, Plymouth, UK.
    Serum ferritin level is one of the most commonly requested investigations in both primary and secondary care. Whilst low serum ferritin levels invariably indicate reduced iron stores, raised serum ferritin levels can be due to multiple different aetiologies, including iron overload, inflammation, liver or renal disease, malignancy, and the recently described metabolic syndrome. A key test in the further investigation of an unexpected raised serum ferritin is the serum transferrin saturation. Read More

    Haemochromatosis: Pathophysiology and the red blood cell1.
    Clin Hemorheol Microcirc 2018 ;69(1-2):295-304
    Biorheology Research Laboratory, Griffith University, Gold Coast, Australia.
    Haemochromatosis remains the most prevalent genetic disorder of Caucasian populations in Australia and the United States, occurring in ∼1 of 200 individuals and having a carrier frequency of 10-14%. Hereditary haemochromatosis is an autosomal recessive condition, that is phenotypically characterised by a gradual accumulation of iron, above and beyond that required for biological function. Once the binding capacity of iron carriers reaches saturation, the highly reactive free iron generates radicals that may lead to widespread cellular dysfunction. Read More

    - 174 G>C IL-6 polymorphism and primary iron overload in male patients.
    Ann Hematol 2018 Apr 14. Epub 2018 Apr 14.
    Laboratorio Lípidos y Aterosclerosis, Departamento de Bioquímica Clínica, Facultad de Farmacia y Bioquímica, Universidad de Buenos Aires, Junín 956 (1113), Buenos Aires, Argentina.
    Primary iron overload (IO) is commonly associated with mutations in the hereditary hemochromatosis gene (HFE). Nonetheless, other genetic variants may influence the development of IO beyond HFE mutations. There is a single nucleotide polymorphism (SNP) at - 174 G>C of the interleukin (IL)-6 gene which might be associated with primary IO. Read More

    Transcriptome Analysis of Acute Phase Liver Graft Injury in Liver Transplantation.
    Biomedicines 2018 Apr 6;6(2). Epub 2018 Apr 6.
    Department of Surgery, The University of Hong Kong, Hong Kong, China.
    Background: Liver transplantation remains the treatment of choice for a selected group of hepatocellular carcinoma (HCC) patients. However, the long-term benefit is greatly hampered by post-transplant HCC recurrence. Our previous studies have identified liver graft injury as an acute phase event leading to post-transplant tumor recurrence. Read More

    Acute Isolated Hyperbilirubinemia as a Presentation of Alcoholic Liver Disease: A Case Report and Literature Review.
    Case Reports Hepatol 2018 12;2018:9403934. Epub 2018 Feb 12.
    Department of Medicine, Interfaith Medical Center, Brooklyn, NY, USA.
    Isolated hyperbilirubinemia as a manifestation of alcoholic liver disease without significant liver abnormalities is seen very rarely. We report such a case where a patient with chronic alcoholism presented to the ER with acute jaundice with bilirubin of 24.8 mg/dl, predominantly conjugated in nature along with mild elevation of AST (76 IU/L). Read More

    Nat Rev Dis Primers 2018 Apr 5;4:18016. Epub 2018 Apr 5.
    INSERM, Univ. Rennes, INRA, Institut NUMECAN (Nutrition Metabolisms and Cancer) UMR_A 1341, UMR_S 1241, F-35000 Rennes, France.
    Haemochromatosis is defined as systemic iron overload of genetic origin, caused by a reduction in the concentration of the iron regulatory hormone hepcidin, or a reduction in hepcidin-ferroportin binding. Hepcidin regulates the activity of ferroportin, which is the only identified cellular iron exporter. The most common form of haemochromatosis is due to homozygous mutations (specifically, the C282Y mutation) in HFE, which encodes hereditary haemochromatosis protein. Read More

    Adenine alleviates iron overload by cAMP/PKA mediated hepatic hepcidin in mice.
    J Cell Physiol 2018 Mar 30. Epub 2018 Mar 30.
    Department of Nutrition, Nutrition Discovery Innovation Center, Institute of Nutrition and Food Safety, School of Public Health, School of Medicine, Zhejiang University, Hangzhou, China.
    Hemochromatosis is prevalent and often associated with high rates of morbidity and mortality worldwide. The safe alternative iron-reducing approaches are urgently needed in order to better control iron overload. Our unbiased vitamin screen for modulators of hepcidin, a master iron regulatory hormone, identifies adenine (vitamin B4) as a potent hepcidin agonist. Read More

    Iron storage disease (hemochromatosis) and hepcidin response to iron load in two species of pteropodid fruit bats relative to the common vampire bat.
    J Comp Physiol B 2018 Mar 29. Epub 2018 Mar 29.
    Department of Pathobiology, Ontario Veterinary College, University of Guelph, 50 Stone Road, Guelph, ON, N1G 2W1, Canada.
    Hepcidin is the key regulator of iron homeostasis in the body. Iron storage disease (hemochromatosis) is a frequent cause of liver disease and mortality in captive Egyptian fruit bats (Rousettus aegyptiacus), but reasons underlying this condition are unknown. Hereditary hemochromatosis in humans is due to deficiency of hepcidin or resistance to the action of hepcidin. Read More

    Spondylodiscitis in a 54-year-old female scuba diver.
    BMJ Case Rep 2018 Mar 28;2018. Epub 2018 Mar 28.
    School of Allied Health Sciences, Griffith University - Gold Coast Campus, Southport, Queensland, Australia.
    A 54-year-old woman presented to a Sports Physician with a 4-year history of haemochromatosis, and she had a medical history that included a congenital spondylolisthesis resulting in a fusion of L4-S1 at age 16 years, episodic mechanical low back pain and an absence of other significant musculoskeletal symptoms. On presentation, she reported 18 months of severe low back pain that started after a scuba diving trip. After the onset of this low back pain, she developed gastrointestinal symptoms from The gastrointestinal symptoms improved with a course of antibiotics, but the back pain persisted in spite of analgesics, non-steroidal anti-inflammatories and several attempts at different conservative management. Read More

    Therapeutic recommendations in HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype.
    Hepatol Int 2018 Mar 27;12(2):83-86. Epub 2018 Mar 27.
    HI - Haemochromatosis International, London, UK.
    Although guidelines are available for hereditary hemochromatosis, a high percentage of the recommendations within them are not shared between the different guidelines. Our main aim is to provide an objective, simple, brief, and practical set of recommendations about therapeutic aspects of HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype, based on the published scientific studies and guidelines, in a form that is reasonably comprehensible to patients and people without medical training. Read More

    Regression of human cirrhosis: an update, 18 years after the pioneering article by Wanless et al.
    Virchows Arch 2018 Mar 27. Epub 2018 Mar 27.
    Department of Pathology, New York University School of Medicine, 550 First Avenue, TH415, New York, NY, 10016, USA.
    Cirrhosis has been traditionally viewed as an irreversible, end-stage condition. Eighteen years ago, Wanless, Nakashima, and Sherman published a study that was based on the concept that hepatic architecture is under constant remodeling in the course of chronic liver diseases, even during their most advanced stages; depending on the balance between injury and repair, the histologic changes might be progressing or regressing. These authors described in detail the morphologic features of regressing cirrhosis, identified a set of histologic features of regression that they called the "hepatic repair complex," and provided convincing morphologic evidence that incomplete septal cirrhosis represents regressed cirrhosis. Read More

    The clinical management of hereditary haemochromatosis.
    Frontline Gastroenterol 2018 04 23;9(2):110-114. Epub 2017 Sep 23.
    Department of Gastroenterology & Hepatology, Royal Surrey County Hospital NHS Foundation Trust, Guildford, Surrey, UK.
    Hereditary haemochromatosis is an autosomal recessive disorder with variable penetrance. Most patients are C282Y homozygotes while heterozygotes or patients who are homozygous with other mutations are uncommonly affected. The true genotype to phenotype expression remains unclear. Read More

    Fatal Cardiac Hemochromatosis in a Patient with Hereditary Spherocytosis.
    Int Heart J 2018 Mar 20;59(2):427-430. Epub 2018 Mar 20.
    Department of Cardiovascular Medicine, Kyushu University Hospital.
    A 31-year-old man was admitted to our hospital with atrial tachycardia and cardiogenic shock. He had been diagnosed with hereditary spherocytosis (HS) during childhood, but he never received any red blood cell transfusions. Right ventricular endomyocardial biopsy revealed multiple myocardial hemosiderin deposits, and he was diagnosed with cardiac hemochromatosis. Read More

    Advantages of time-resolved contrast-enhanced 4D MR angiography in splenic arterial steal syndrome.
    Clin Imaging 2018 May - Jun;49:169-173. Epub 2018 Mar 7.
    Department of Radiology, Case Western Reserve University, University Hospitals Cleveland Medical Center, Cleveland, OH, United States. Electronic address:
    Splenic artery steal syndrome (SASS) is a severe complication affecting up to 10% of orthotopic liver transplant (OLT) patients. In this case report, we present a 35-year-old male with OLT secondary to liver failure due to hemochromatosis, who developed SASS. We describe potential application of different imaging techniques for diagnosis of SASS with focus on the value of time-resolved contrast enhanced 4D magnetic resonance angiography (MRA). Read More

    MyD88 Adaptor Protein Is Required for Appropriate Hepcidin Induction in Response to Dietary Iron Overload in Mice.
    Front Physiol 2018 5;9:159. Epub 2018 Mar 5.
    Nutrition and Microbiome Laboratory, Centre de Recherche du Centre Hospitalier de l'Université de Montréal, Montréal, QC, Canada.
    Iron homeostasis is tightly regulated to provide virtually all cells in the body, particularly red blood cells, with this essential element while defending against its toxicity. The peptide hormone hepcidin is central to the control of the amount of iron absorbed from the diet and iron recycling from macrophages. Previously, we have shown that hepcidin induction in macrophages following Toll-like receptor (TLR) stimulation depends on the presence of myeloid differentiation primary response gene 88 (MyD88). Read More

    Primary Hemochromatosis Presenting as Type 2 Diabetes Mellitus: A Case Report with Review of Literature.
    Int J Appl Basic Med Res 2018 Jan-Mar;8(1):57-60
    Department of Pathology, ESIC Medical College & PGIMSR and Model Hospital, Bangalore, Karnataka, India.
    Hemochromatosis is an autosomal recessive genetic disorder resulting in increased intestinal absorption of iron and eventually to iron overload. The onset of symptoms is usually seen around 40 years of age. Iron overload causes tissue damage in liver, pancreas, skin, joints, heart, and gonads. Read More

    Iron overload cardiomyopathy: from diagnosis to management.
    Curr Opin Cardiol 2018 May;33(3):334-340
    Advanced Heart Failure and Transplant Unit.
    Purpose Of Review: Iron overload cardiomyopathy (IOC) is an important predictor of prognosis in a significant number of patients with hereditary hemochromatosis and hematologic diseases. Its prevalence is increasing because of improved treatment strategies, which significantly improve life expectancy. We will review diagnosis, treatment, and recent findings in the field. Read More

    Liver Iron Quantification with MR Imaging: A Primer for Radiologists.
    Radiographics 2018 Mar-Apr;38(2):392-412
    From the Department of Radiology (R.L., G.G., M.C., K.N.V., D.O., J.S.B., A.T.) and Service of Hemato-oncology, Department of Medicine (D.S.), Centre Hospitalier de l'Université de Montréal, 1000 rue Saint-Denis, Montréal, QC, Canada H2X 0C2; MR Clinical Science, Philips Healthcare Canada, Markham, ON, Canada (G.G.); Department of Radiology and Advanced Imaging Research Center, University of Texas Southwestern Medical Center, Dallas, Tex (T.Y.); and Centre de Recherche du Centre Hospitalier de l'Université de Montréal, Montréal, QC, Canada (A.T.).
    Iron overload is a systemic disorder and is either primary (genetic) or secondary (exogenous iron administration). Primary iron overload is most commonly associated with hereditary hemochromatosis and secondary iron overload with ineffective erythropoiesis (predominantly caused by β-thalassemia major and sickle cell disease) that requires long-term transfusion therapy, leading to transfusional hemosiderosis. Iron overload may lead to liver cirrhosis and hepatocellular carcinoma, in addition to cardiac and endocrine complications. Read More

    Genetic Infiltrative Cardiomyopathies.
    Heart Fail Clin 2018 Apr;14(2):215-224
    Adult Medical Genetics Program, Cardiovascular Institute, University of Colorado Anschutz, 12700 East 19th Avenue, Aurora, CO 80045, USA. Electronic address:
    Infiltrative cardiomyopathies are characterized by abnormal accumulation or deposition of substances in cardiac tissue leading to cardiac dysfunction. These can be inherited, resulting from mutations in specific genes, which engender a diverse array of extracardiac features but overlapping cardiac phenotypes. This article provides an overview of each inherited infiltrative cardiomyopathy, describing the causative genes, the pathologic mechanisms involved, the resulting cardiac manifestations, and the therapies currently offered or being developed. Read More

    Hepcidin agonists as therapeutic tools.
    Blood 2018 Apr 9;131(16):1790-1794. Epub 2018 Mar 9.
    Division of Hematology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA; and.
    Hepcidin agonists are a new class of compounds that regulate blood iron levels, limit iron absorption, and could improve the treatment of hemochromatosis, β-thalassemia, polycythemia vera, and other disorders in which disrupted iron homeostasis causes or contributes to disease. Hepcidin agonists also have the potential to prevent severe complications of siderophilic infections in patients with iron overload or chronic liver disease. This review highlights the preclinical studies that support the development of hepcidin agonists for the treatment of these disorders. Read More

    Gene-gene interactions among coding genes of iron-homeostasis proteins and APOE-alleles in cognitive impairment diseases.
    PLoS One 2018 8;13(3):e0193867. Epub 2018 Mar 8.
    Department of Biomedical and Specialty Surgical Sciences, and Section of Medical Biochemistry, Molecular Biology & Genetics and Ctr. Hemostasis & Thrombosis, University of Ferrara, Ferrara, Italy.
    Cognitive impairments of different aetiology share alterations in iron and lipid homeostasis with mutual relationships. Since iron and cholesterol accumulation impact on neurodegenerative disease, the associated gene variants are appealing candidate targets for risk and disease progression assessment. In this light, we explored the role of common single nucleotide polymorphisms (SNPs) in the main iron homeostasis genes and in the main lipoprotein transporter gene (APOE) in a cohort of 765 patients with dementia of different origin: Alzheimer's disease (AD) n = 276; vascular dementia (VaD), n = 255; mild cognitive impairment (MCI), n = 234; and in normal controls (n = 1086). Read More

    The Effects of Gestational Alloimmune Liver Disease on Fetal and Infant Morbidity and Mortality.
    J Pediatr 2018 May 27;196:123-128.e1. Epub 2018 Feb 27.
    Department of Pediatrics, Ann and Robert H Lurie Children's Hospital of Chicago, Chicago, IL.
    Objectives: To evaluate pregnancy outcomes in pedigrees of neonatal hemochromatosis to determine the spectrum of gestational alloimmune liver disease (GALD) in a large cohort.

    Study Design: We prospectively collected data from women with a prior offspring with proven neonatal hemochromatosis between 1997 and 2015 and analyzed pregnancy outcomes.

    Results: The pedigrees from 150 women included 350 gestations with outcomes potentially related to GALD. Read More

    The voice of haemochromatosis journeys in regional Australia.
    Aust J Gen Pract 2018 Jan-Feb;47(1-2):64-69
    MBBS, MMedSci, GCULT, PhD, FRACGP, College of Medicine and Dentistry, James Cook University, Townsville, Qld.
    Discussion: People living with haemochromatosis had a positive attitude to the condition, but there were individual variations in the ways they engaged in self-management. A doctor–patient partnership is crucial in the management of haemochromatosis, especially in rural areas. Patients' symptom experiences and self‑management decisions need to be seriously considered. Read More

    Osteoporosis in chronic liver disease.
    Liver Int 2018 May 25;38(5):776-785. Epub 2018 Mar 25.
    Liver Unit, Hospital Clínic, IDIBAPS, CIBERehd, University of Barcelona, Barcelona, Spain.
    Osteoporosis is a frequent complication in patients with chronic liver disease, especially in end-stages and in chronic cholestasis, in addition to non-alcoholic fatty liver disease, haemochromatosis and alcoholism. Mechanisms underlying osteoporosis are poorly understood, but osteoporosis mainly results from low bone formation. In this setting, sclerostin, a key regulator of the Wnt/β-catenin signalling pathway which regulates bone formation, in addition to the effects of the retained substances of cholestasis such as bilirubin and bile acids on osteoblastic cells, may influence the decreased bone formation in chronic cholestasis. Read More

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