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

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...

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Bibliographic Details
Published in:	Genes Vol. 12; no. 12; p. 1869
Main Authors:	Huettmann, Carolina, Stelljes, Matthias, Sivalingam, Sugirthan, Fobker, Manfred, Vrachimis, Alexis, Exler, Anne, Wenning, Christian, Wempe, Carola, Penke, Matthias, Buness, Andreas, Ludwig, Kerstin U., Muckenthaler, Martina U., Steinbicker, Andrea U.
Format:	Journal Article
Language:	English
Published:	Switzerland MDPI AG 24.11.2021 MDPI
Subjects:	Aged Aged, 80 and over Anemia Anemia, Iron-Deficiency - blood Anemia, Iron-Deficiency - etiology Anemia, Iron-Deficiency - genetics Biopsy Bleeding Blood Bone marrow Chronic illnesses Cytokines diagnostic techniques Erythrocytes Erythropoiesis Erythropoiesis - genetics Excretion Families & family life Feces Female Ferritin Gastrointestinal Tract - metabolism Genetic diversity Genetic Variation - genetics Graphite Hemoglobin Hemorrhage - complications Hemorrhage - genetics Heredity Humans Intestine intestines Intravenous administration intravenous injection Iron Iron - blood Iron - metabolism Iron - urine Iron Deficiencies - etiology Iron Deficiencies - genetics Iron deficiency iron deficiency anemia liver Magnetic resonance imaging Male Middle Aged Mutation Mutation - genetics Nutrient deficiency Patients Plasma probability urine Germany genetically caused iron imbalance iron erythropoiesis intestinal iron loss red cells
ISSN:	2073-4425, 2073-4425
Online Access:	Get full text
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Summary:	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.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 content type line 23 Former affiliation: Department of Anesthesiology, Intensive Care and Pain Medicine, University Hospital Muenster, 48149 Muenster, Germany. Current affiliation: German Oncology Center, 4108 Limassol, Cyprus.
ISSN:	2073-4425 2073-4425
DOI:	10.3390/genes12121869