Dataset Information

Iron Deficiency Caused by Intestinal Iron Loss-Novel Candidate Genes for Severe Anemia.

ABSTRACT: The adult human body contains about 4 g of iron. About 1-2 mg of iron is absorbed every day, and in healthy individuals, the same amount is excreted. We describe a patient who presents with severe iron deficiency anemia with hemoglobin levels below 6 g/dL and ferritin levels below 30 ng/mL. Although red blood cell concentrates and intravenous iron have been substituted every month for years, body iron stores remain depleted. Diagnostics have included several esophago-gastro-duodenoscopies, colonoscopies, MRI of the liver, repetitive bone marrow biopsies, psychological analysis, application of radioactive iron to determine intact erythropoiesis, and measurement of iron excretion in urine and feces. Typically, gastrointestinal bleeding is a major cause of iron loss. Surprisingly, intestinal iron excretion in stool in the patient was repetitively increased, without gastrointestinal bleeding. Furthermore, whole exome sequencing was performed in the patient and additional family members to identify potential causative genetic variants that may cause intestinal iron loss. Under different inheritance models, several rare mutations were identified, two of which (in CISD1 and KRI1) are likely to be functionally relevant. Intestinal iron loss in the current form has not yet been described and is, with high probability, the cause of the severe iron deficiency anemia in this patient.

SUBMITTER: Huettmann C

PROVIDER: S-EPMC8700796 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature

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Iron Deficiency Caused by Intestinal Iron Loss-Novel Candidate Genes for Severe Anemia.

Huettmann Carolina C Stelljes Matthias M Sivalingam Sugirthan S Fobker Manfred M Vrachimis Alexis A Exler Anne A Wenning Christian C Wempe Carola C Penke Matthias M Buness Andreas A Ludwig Kerstin U KU Muckenthaler Martina U MU Steinbicker Andrea U AU

Genes 20211124 12

The adult human body contains about 4 g of iron. About 1-2 mg of iron is absorbed every day, and in healthy individuals, the same amount is excreted. We describe a patient who presents with severe iron deficiency anemia with hemoglobin levels below 6 g/dL and ferritin levels below 30 ng/mL. Although red blood cell concentrates and intravenous iron have been substituted every month for years, body iron stores remain depleted. Diagnostics have included several esophago-gastro-duodenoscopies, colon ...[more]

PMID: 34946818

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Project description:ImportanceHearing loss in the US adult population is linked to hospitalization, poorer self-reported health, hypertension, diabetes, and tobacco use. Because iron deficiency anemia (IDA) is a common and easily correctable condition, further understanding of the association between IDA and all types of hearing loss in a population of US adults may help to open new possibilities for early identification and appropriate treatment.ObjectiveTo evaluate the association between sensorineural hearing loss (SNHL) and conductive hearing loss and IDA in adults aged 21 to 90 years in the United States.Design, setting, and participantsThe prevalence of IDA and hearing loss (International Classification of Diseases, Ninth Revision codes 389.1 [SNHL], 389.0 [conductive hearing loss], and 389 [combined hearing loss]) was identified in this retrospective cohort study at the Penn State Milton S. Hershey Medical Center, Hershey, Pennsylvania. Iron deficiency anemia was determined by low hemoglobin and ferritin levels for age and sex in 305 339 adults aged 21 to 90 years. Associations between hearing loss and IDA were evaluated using χ2 testing, and logistic regression was used to model the risk of hearing loss among those with IDA. The study was conducted from January 1, 2011, to October 1, 2015.Main outcomes and measuresHearing loss.ResultsOf 305 339 patients in the study population, 132 551 were men (43.4%); mean (SD) age was 50.1 (18.5) years. There was a 1.6% (n = 4807) prevalence of combined hearing loss and 0.7% (n = 2274) prevalence of IDA. Both SNHL (present in 26 of 2274 individuals [1.1%] with IDA; P = .005) and combined hearing loss (present in 77 [3.4%]; P < .001) were significantly associated with IDA. Logistic regression analysis confirmed increased odds of SNHL (adjusted odds ratio [OR], 1.82; 95% CI, 1.18-2.66) and combined hearing loss (adjusted OR, 2.41; 95% CI, 1.90-3.01) among adults with IDA, after adjusting for sex.Conclusions and relevanceIron deficiency anemia was associated with SNHL and combined hearing loss in a population of adult patients. Further research is needed to better understand the potential links between IDA and hearing loss and whether screening and treatment of IDA in adults could have clinical implications in patients with hearing loss.

Project description:BackgroundPrevious trials of prenatal iron supplementation had limited measures of maternal or neonatal iron status.ObjectiveThe purpose was to assess effects of prenatal iron-folate supplementation on maternal and neonatal iron status.MethodsEnrollment occurred June 2009 through December 2011 in Hebei, China. Women with uncomplicated singleton pregnancies at ≤20 wk gestation, aged ≥18 y, and with hemoglobin ≥100 g/L were randomly assigned 1:1 to receive daily iron (300 mg ferrous sulfate) or placebo + 0.40 mg folate from enrollment to birth. Iron status was assessed in maternal venous blood (at enrollment and at or near term) and cord blood. Primary outcomes were as follows: 1) maternal iron deficiency (ID) defined in 2 ways as serum ferritin (SF) <15 μg/L and body iron (BI) <0 mg/kg; 2) maternal ID anemia [ID + anemia (IDA); hemoglobin <110 g/L]; and 3) neonatal ID (cord blood ferritin <75 μg/L or zinc protoporphyrin/heme >118 μmol/mol).ResultsA total of 2371 women were randomly assigned, with outcomes for 1632 women or neonates (809 placebo/folate, 823 iron/folate; 1579 mother-newborn pairs, 37 mothers, 16 neonates). Most infants (97%) were born at term. At or near term, maternal hemoglobin was significantly higher (+5.56 g/L) for iron vs. placebo groups. Anemia risk was reduced (RR: 0.53; 95% CI: 0.43, 0.66), as were risks of ID (RR: 0.74; 95% CI: 0.69, 0.79 by SF; RR: 0.65; 95% CI: 0.59, 0.71 by BI) and IDA (RR: 0.49; 95% CI: 0.38, 0.62 by SF; RR: 0.51; 95% CI: 0.40, 0.65 by BI). Most women still had ID (66.8% by SF, 54.7% by BI). Adverse effects, all minor, were similar by group. There were no differences in cord blood iron measures; >45% of neonates in each group had ID. However, dose-response analyses showed higher cord SF with more maternal iron capsules reported being consumed (β per 10 capsules = 2.60, P < 0.05).ConclusionsPrenatal iron supplementation reduced anemia, ID, and IDA in pregnant women in rural China, but most women and >45% of neonates had ID, regardless of supplementation. This trial was registered at clinicaltrials.gov as NCT02221752.

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Iron Deficiency Caused by Intestinal Iron Loss-Novel Candidate Genes for Severe Anemia.

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Iron Deficiency Caused by Intestinal Iron Loss-Novel Candidate Genes for Severe Anemia.

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