scholarly journals Secondary Hemochromatosis due to Chronic Oral Iron Supplementation

2017 ◽  
Vol 2017 ◽  
pp. 1-3
Author(s):  
Ronald Lands ◽  
Emmanuel Isang
Keyword(s):  
Diabetes Mellitus ◽  
Iron Overload ◽  
Liver Damage ◽  
Ferrous Sulfate ◽  
Iron Supplementation ◽  
Geriatric Patients ◽  
Hepatic Cirrhosis ◽  
Hfe Gene ◽  
Excess Iron ◽  
Chronic Ingestion

Iron may accumulate in excess due to a mutation in the HFE gene that upregulates absorption or when it is ingested or infused at levels that exceed the body’s ability to clear it. Excess iron deposition in parenchymal tissue causes injury and ultimately organ dysfunction. Diabetes mellitus and hepatic cirrhosis due to pancreas and liver damage are just two examples of diseases that result from iron overload. Despite the rapid growth of information regarding iron metabolism and iron overload states, the most effective treatment is still serial phlebotomies. We present a patient who developed iron overload due to chronic ingestion of oral ferrous sulfate. This case illustrates the importance of querying geriatric patients regarding their use of nonprescription iron products without a medical indication.

Bioinformatics and wet laboratory analysis of rs1800562 to predict genetic aetiology of iron overload in Nigeria

2021 ◽  
Vol 156 (Supplement_1) ◽  
pp. S145-S146
Author(s):  
A B Bolarinwa ◽  
F Onawoga
Keyword(s):  
Iron Overload ◽  
In Silico ◽  
Protein Localization ◽  
Restriction Enzymes ◽  
Protein Product ◽  
Laboratory Analysis ◽  
Hfe Gene ◽  
Excess Iron ◽  
Stability Change ◽  
Suitable Restriction

Abstract Introduction/Objective The most reported single nucleotide polymorphism (SNP) of the HFE gene is rs1800562, representing the substitution of Adenine for Guanine at position 847 of the HFE gene. This has been widely implicated in hereditary haemochromatosis and other conditions like altered cholesterol balance, Alzheimer’s disease and cutaneous photosensitivity. Abnormal HFE protein resulting from the mutant HFE gene leads to formation of excess iron which has been postulated as likely mechanism for these diseases. Although there is evidence of iron overload in Africans, only few studies have explored possible genetic causes, and prevalence of rs1800562 is not known in West African population. Hence the need to determine the prevalence of rs1800562 in Nigeria using computational and wet laboratory approach. Methods/Case Report Details of rs1800562 were retrieved from Ensembl Genome Browser version 99. Severity of the consequences of this SNP on protein product was determined using bioinformatics tools including SIFT, Polyphen, Mutation Assessor, HOPE, I-mutant and MutPred2. Genotyping of rs1800562 was done In silico using restriction fragment length polymorphism (RFLP). Primer3plus was used for primer design, NCBI BLAST and SMS were used for primer validation. We used Webcutter 2.0 to determine suitable restriction enzymes. The genotyping was simulated using USCS virtual PCR and RestrictionMapper. Whole blood samples were obtained from 200 participants selected randomly from a pool of blood donors. DNA was extracted and flanking region of rs1800562 was amplified. The amplified product was digested by RSA1and fragments examined on agarose gel electrophoresis. Results (if a Case Study enter NA) The MAF was found to be 0.01 globally and 0.02 in Africa. In the two Nigerian population examined (Yoruba and Esan population), MAF was 0.00. Mutation Assessor and SIFT Polyphen consistently predicted the mutation to be of severe consequences. Analysis on HOPE, I-mutant and Mutpred2 revealed loss of protein stability, change in net charges affecting the HFE protein localization and its interaction with other proteins. All the participants in the wet laboratory analysis were homozygous for the wild type allele of rs1800562 (MAF=0). Conclusion This study confirmed the In silico prediction of the absence of rs1800562 in Nigeria. Future studies should focus on other SNPs of the HFE gene as well as other gene involved in iron metabolism.

scholarly journals The Effectiveness of Different Doses of Iron Supplementation and the Prenatal Determinants of Maternal Iron Status in Pregnant Spanish Women: ECLIPSES Study

Nutrients ◽  
2019 ◽  
Vol 11 (10) ◽  
pp. 2418 ◽  
Author(s):  
Lucía Iglesias Vázquez ◽  
Victoria Arija ◽  
Núria Aranda ◽  
Estefanía Aparicio ◽  
Núria Serrat ◽  
...  
Keyword(s):  
Iron Deficiency ◽  
Early Pregnancy ◽  
Iron Supplementation ◽  
Iron Status ◽  
Deficiency Anemia ◽  
Hfe Gene ◽  
Excess Iron ◽  
Spanish Women ◽  
Maternal Iron ◽  
Different Doses

Iron deficiency (ID), anemia, iron deficiency anemia (IDA) and excess iron (hemoconcentration) harm maternal–fetal health. We evaluated the effectiveness of different doses of iron supplementation adjusted for the initial levels of hemoglobin (Hb) on maternal iron status and described some associated prenatal determinants. The ECLIPSES study included 791 women, randomized into two groups: Stratum 1 (Hb = 110–130g/L, received 40 or 80mg iron daily) and Stratum 2 (Hb > 130g/L, received 20 or 40mg iron daily). Clinical, biochemical, and genetic information was collected during pregnancy, as were lifestyle and sociodemographic characteristics. In Stratum 1, using 80 mg/d instead of 40 mg/d protected against ID on week 36. Only women with ID on week 12 benefited from the protection against anemia and IDA by increasing Hb levels. In Stratum 2, using 20 mg/d instead of 40 mg/d reduced the risk of hemoconcentration in women with initial serum ferritin (SF) ≥ 15 μg/L, while 40 mg/d improved SF levels on week 36 in women with ID in early pregnancy. Mutations in the HFE gene increased the risk of hemoconcentration. Iron supplementation should be adjusted to early pregnancy levels of Hb and iron stores. Mutations of the HFE gene should be evaluated in women with high Hb levels in early pregnancy.

scholarly journals A rare cause of osteonecrosis

2012 ◽  
pp. 52-56
Author(s):  
Paolo Agostinis ◽  
Maurizio Vergendo ◽  
Nicola Bizzaro ◽  
Claudio Avellini ◽  
Nadia Durigon ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Skin Pigmentation ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
High Plasma ◽  
Hfe Gene ◽  
Crystal Deposition ◽  
Excess Iron ◽  
Rheumatic Manifestations ◽  
Iron Deposits

IntroductionHereditary hemochromatosis (HH) is an autosomal recessive disorder caused by mutations in the HFE gene, which increase intestinal iron absorption. The prevalence of C282Y homozygosity, which causes the disorder, is 0.5% in Caucasian populations. The clinical manifestations are related to excess iron in the tissues, especially the liver, heart, pancreas, pituitary, and skin. They include fatigue, loss of libido or impotence in males, liver disease, skin pigmentation, diabetes mellitus, cardiac enlargement—with or without heart failure, and conduction defects. The classic triad of cirrhosis, diabetes mellitus, and skin pigmentation (“bronze diabetes”) results from a combination of iron deposits and melanin. It occurs late in the disease, when the total body iron content is more than five times the normal value, about 20 grams. Left untreated, approximately half of all patients with HH eventually develop arthralgia or arthropathy. Chondrocalcinosis, chronic pseudo-osteoarthritis, and osteoporosis are the major rheumatic manifestations of HH. The cause of the arthropathy is still unknown. Iron deposits within joints may trigger a number of pathologic events, such as free radical generation and crystal deposition, which stimulate immune complex formation and inflammation.Materials and methodsWe describe the case of a 48-year-old male suffering from chronic bilateral ankle pain.ResultsThe work-up revealed osteonecrosis of ankle. The patient also presented high plasma ferritin levels and homozygosity for the C282Y mutation. Other than HH, which was confirmed by liver biopsy, the patient had no other risk factors for osteonecrosis.DiscussionHH represents a rare cause of osteonecrosis, and there are no prior reports of aseptic osteonecrosis of the ankle in a patient with this disease. The pathogenetic mechanism remains unknown.

scholarly journals Postnatal Iron Supplementation with Ferrous Sulfate vs. Ferrous Bis-Glycinate Chelate: Effects on Iron Metabolism, Growth, and Central Nervous System Development in Sprague Dawley Rat Pups

Nutrients ◽  
2021 ◽  
Vol 13 (5) ◽  
pp. 1406
Author(s):  
Shasta McMillen ◽  
Bo Lönnerdal
Keyword(s):  
Ferrous Sulfate ◽  
Iron Supplementation ◽  
Brain Size ◽  
System Development ◽  
Iron Status ◽  
Nervous System Development ◽  
Iron Regulation ◽  
Sprague Dawley ◽  
Excess Iron ◽  
Rat Pups

Iron-fortified formulas and iron drops (both usually ferrous sulfate, FS) prevent early life iron deficiency, but may delay growth and adversely affect neurodevelopment by providing excess iron. We used a rat pup model to investigate iron status, growth, and development outcomes following daily iron supplementation (10 mg iron/kg body weight, representative of iron-fortified formula levels) with FS or an alternative, bioavailable form of iron, ferrous bis-glycinate chelate (FC). On postnatal day (PD) 2, sex-matched rat litters (n = 3 litters, 10 pups each) were randomly assigned to receive FS, FC, or vehicle control until PD 14. On PD 15, we evaluated systemic iron regulation and CNS mineral interactions and we interrogated iron loading outcomes in the hippocampus, in search of mechanisms by which iron may influence neurodevelopment. Body iron stores were elevated substantially in iron-supplemented pups. All pups gained weight normally, but brain size on PD 15 was dependent on iron source. This may have been associated with reduced hippocampal oxidative stress but was not associated with CNS mineral interactions, iron regulation, or myelination, as these were unchanged with iron supplementation. Additional studies are warranted to investigate iron form effects on neurodevelopment so that iron recommendations can be optimized for all infants.

Dysmetabolic iron overload syndrome and its relationship with HFE gene mutations and with liver steatosis

2020 ◽  
Vol 52 (6) ◽  
pp. 683-685
Author(s):  
Agustín Castiella ◽  
Iratxe Urreta ◽  
Eva Zapata ◽  
MªDolores de Juan ◽  
José Mª Alústiza ◽  
...  
Keyword(s):  
Iron Overload ◽  
Liver Steatosis ◽  
Gene Mutations ◽  
Hfe Gene ◽  
Hfe Gene Mutations

Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis

Blood ◽  
2002 ◽  
Vol 100 (2) ◽  
pp. 692-694 ◽  
Author(s):  
Daniel F. Wallace ◽  
Palle Pedersen ◽  
Jeannette L. Dixon ◽  
Peter Stephenson ◽  
Jeffrey W. Searle ◽  
...  
Keyword(s):  
Iron Transport ◽  
Autosomal Recessive ◽  
Iron Homeostasis ◽  
Autosomal Dominant ◽  
Novel Mutation ◽  
Hfe Gene ◽  
Excess Iron ◽  
Chromosome 1Q ◽  
Australian Family ◽  
Autosomal Recessive Pattern

Abstract Hemochromatosis is a common disorder characterized by excess iron absorption and accumulation of iron in tissues. Usually hemochromatosis is inherited in an autosomal recessive pattern and is caused by mutations in the HFE gene. Less common non-HFE–related forms of hemochromatosis have been reported and are caused by mutations in the transferrin receptor 2 gene and in a gene localized to chromosome 1q. Autosomal dominant forms of hemochromatosis have also been described. Recently, 2 mutations in theferroportin1 gene, which encodes the iron transport protein ferroportin1, have been implicated in families with autosomal dominant hemochromatosis from the Netherlands and Italy. We report the finding of a novel mutation (V162del) in ferroportin1 in an Australian family with autosomal dominant hemochromatosis. We propose that this mutation disrupts the function of the ferroportin1 protein, leading to impaired iron homeostasis and iron overload.

Hepatocorbidity in psoriasis

2021 ◽  
pp. 7-11
Author(s):  
M. A. Koroleva
Keyword(s):  
Diabetes Mellitus ◽  
Psoriatic Arthritis ◽  
Mental Disorders ◽  
Cardiovascular System ◽  
Liver Damage ◽  
Liver Diseases ◽  
Hepatobiliary System ◽  
Immunological Mechanisms ◽  
Bowel Diseases ◽  
Comorbid Diseases

Тhe well-known manifestations in psoriasis include psoriatic arthritis and psoriasis of the nails, however, at present, other conditions comorbid to psoriasis have begun to be actively studied: such as liver diseases, diabetes mellitus, diseases of the cardiovascular system, obesity, mental disorders, inflmmatory bowel diseases. and joints. In addition to similar immunological mechanisms, genes have been found that are common to psoriasis and the comorbid diseases associated with it. The article provides data on dysfunctions of the hepatobiliary system in patients with psoriasis. The article reveals the results of studies conducted by foreign and domestic authors, which have shown signifiant relationships in the severity of liver damage in psoriasis.

scholarly journals Alcohol Use in Young Adults With Type 1 Diabetes Mellitus

2017 ◽  
Vol 11 (6) ◽  
pp. 433-435 ◽  
Author(s):  
Nicole D. White
Keyword(s):  
Diabetes Mellitus ◽  
Type 1 Diabetes ◽  
Young Adults ◽  
Glucose Metabolism ◽  
Alcohol Use ◽  
Adverse Effects ◽  
Type 1 Diabetes Mellitus ◽  
Acute Ingestion ◽  
Chronic Ingestion

Although fewer individuals with type 1 diabetes mellitus (T1DM) drink alcohol, the potential and severity of harm associated with its consumption is higher in persons with diabetes. Alcohol use affects glucose metabolism and results in various potential adverse effects both from acute ingestion and chronic ingestion in persons with T1DM. The purpose of this article is to describe the effects of alcohol on glucose metabolism and diabetes control in persons with T1DM and propose counseling pearls for providers working with patients in this population.

scholarly journals Progressive dysfunction of monocytes associated with iron overload and age in patients with thalassemia major

Blood ◽  
1986 ◽  
Vol 67 (1) ◽  
pp. 105-109
Author(s):  
IJ Ballart ◽  
ME Estevez ◽  
L Sen ◽  
RA Diez ◽  
J Giuntoli ◽  
...  
Keyword(s):  
Blood Transfusion ◽  
Iron Overload ◽  
Liver Damage ◽  
Thalassemia Major ◽  
Lytic Activity ◽  
Blood Monocytes ◽  
Peripheral Blood Monocytes ◽  
Cell Dysfunction ◽  
Positive Effect ◽  
Increased Susceptibility

We evaluated phagocytic and lytic activities of peripheral blood monocytes (PBMo) from patients with thalassemia major (ThP) using C pseudotropicalis as the target. PBMo from ThP showed decreased lytic activity (P less than .001), whereas the phagocytic activity did not differ from that of the controls. Significant inverse correlations were found between lytic activity of PBMo and age of patients (r2 = .47; P less than .01) and also between lytic activity and serum ferritin levels (r2 = .65; P less than .001). No association was found between lytic activity and other variables (blood transfusion regimens, therapy with desferrioxamine, liver damage, and the presence of sHBAg). Splenectomy showed no positive effect on PBMo functions from ThP. Our results suggest that PBMo from ThP have an intracellular defect in their microbicidal mechanisms associated with iron overload. This cell dysfunction could be responsible, at least in part, for the increased susceptibility to infections reported in ThP.

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